Canonical Allele Identifier:
CA3478308
Gene:
PCDHGC4
HGNC
NCBI
PCDHGA10 HGNC NCBI
PCDHGA1 HGNC NCBI
PCDHGA5 HGNC NCBI
PCDHGB6 HGNC NCBI
PCDHGB2 HGNC NCBI
PCDHGB1 HGNC NCBI
PCDHGA9 HGNC NCBI
PCDHGB5 HGNC NCBI
PCDHGA12 HGNC NCBI
PCDHGC5 HGNC NCBI
PCDHGA3 HGNC NCBI
PCDHGC3 HGNC NCBI
PCDHGA2 HGNC NCBI
PCDHGA11 HGNC NCBI
PCDHGB7 HGNC NCBI
PCDHGA8 HGNC NCBI
PCDHGA6 HGNC NCBI
PCDHGA7 HGNC NCBI
PCDHGB4 HGNC NCBI
PCDHGA4 HGNC NCBI
PCDHGB3 HGNC NCBI
PCDHGA10 HGNC NCBI
PCDHGA1 HGNC NCBI
PCDHGA5 HGNC NCBI
PCDHGB6 HGNC NCBI
PCDHGB2 HGNC NCBI
PCDHGB1 HGNC NCBI
PCDHGA9 HGNC NCBI
PCDHGB5 HGNC NCBI
PCDHGA12 HGNC NCBI
PCDHGC5 HGNC NCBI
PCDHGA3 HGNC NCBI
PCDHGC3 HGNC NCBI
PCDHGA2 HGNC NCBI
PCDHGA11 HGNC NCBI
PCDHGB7 HGNC NCBI
PCDHGA8 HGNC NCBI
PCDHGA6 HGNC NCBI
PCDHGA7 HGNC NCBI
PCDHGB4 HGNC NCBI
PCDHGA4 HGNC NCBI
PCDHGB3 HGNC NCBI
Linked Data
ClinVar Variation Id:
776071
ClinVar RCV Id:
RCV000956315
dbSNP Id:
rs2233607
ExAC:
5:140870214 G / A
gnomAD v2:
5-140870214-G-A
gnomAD v3:
5-141490647-G-A
gnomAD v4:
5-141490647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141490647G>A , CM000667.2:g.141490647G>A | GRCh38 |
| NC_000005.9:g.140870214G>A , CM000667.1:g.140870214G>A | GRCh37 |
| NC_000005.8:g.140850398G>A | NCBI36 |
| NG_050746.1:g.10474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306593.2:c.2442+3032G>A (PCDHGC4) MANE Select | ENSP00000306918.1:n.2442+3032G>A | |
| ENST00000398610.3:c.2437-4160G>A (PCDHGA10) MANE Select | ENSP00000381611.2:n.2437-4160G>A | |
| ENST00000517417.3:c.2422-4160G>A (PCDHGA1) MANE Select | ENSP00000431083.1:n.2422-4160G>A | |
| ENST00000518069.2:c.2422-4160G>A (PCDHGA5) MANE Select | ENSP00000429834.1:n.2422-4160G>A | |
| ENST00000520790.2:c.2419-4160G>A (PCDHGB6) MANE Select | ENSP00000428603.1:n.2419-4160G>A | |
| ENST00000522605.2:c.2422-4160G>A (PCDHGB2) MANE Select | ENSP00000429018.1:n.2422-4160G>A | |
| ENST00000523390.2:c.2410-4160G>A (PCDHGB1) MANE Select | ENSP00000429273.1:n.2410-4160G>A | |
| ENST00000573521.2:c.2425-4160G>A (PCDHGA9) MANE Select | ENSP00000460274.1:n.2425-4160G>A | |
| ENST00000617380.2:c.2398-4160G>A (PCDHGB5) MANE Select | ENSP00000478258.1:n.2398-4160G>A | |
| ENST00000252085.4:c.2425-4160G>A (PCDHGA12) MANE Select | ENSP00000252085.3:n.2425-4160G>A | |
| ENST00000252087.3:c.1407G>A (PCDHGC5) MANE Select | ENSP00000252087.2:p.Pro469= | |
| ENST00000253812.8:c.2425-4160G>A (PCDHGA3) MANE Select | ENSP00000253812.7:n.2425-4160G>A | |
| ENST00000308177.5:c.2431-4160G>A (PCDHGC3) MANE Select | ENSP00000312070.3:n.2431-4160G>A | |
| ENST00000394576.3:c.2425-4160G>A (PCDHGA2) MANE Select | ENSP00000378077.2:n.2425-4160G>A | |
| ENST00000398587.7:c.2434-4160G>A (PCDHGA11) MANE Select | ENSP00000381589.2:n.2434-4160G>A | |
| ENST00000398594.4:c.2416-4160G>A (PCDHGB7) MANE Select | ENSP00000381594.3:n.2416-4160G>A | |
| ENST00000398604.3:c.2425-4160G>A (PCDHGA8) MANE Select | ENSP00000381605.2:n.2425-4160G>A | |
| ENST00000517434.3:c.2425-4160G>A (PCDHGA6) MANE Select | ENSP00000429601.2:n.2425-4160G>A | |
| ENST00000518325.2:c.2425-4160G>A (PCDHGA7) MANE Select | ENSP00000430024.1:n.2425-4160G>A | |
| ENST00000519479.2:c.2398-4160G>A (PCDHGB4) MANE Select | ENSP00000428288.1:n.2398-4160G>A | |
| ENST00000571252.3:c.2515-4160G>A (PCDHGA4) MANE Select | ENSP00000458570.2:n.2515-4160G>A | |
| ENST00000576222.2:c.2416-4160G>A (PCDHGB3) MANE Select | ENSP00000461862.1:n.2416-4160G>A | |
| ENST00000252085.3:c.2425-4160G>A (PCDHGA12) | ENSP00000252085.3:n.2425-4160G>A | |
| ENST00000252087.2:c.1407G>A (PCDHGC5) | ENSP00000252087.1:p.Pro469= | |
| ENST00000253812.7:c.2425-4160G>A (PCDHGA3) | ENSP00000253812.6:n.2425-4160G>A | |
| ENST00000306593.1:c.2442+3032G>A (PCDHGC4) | ENSP00000306918.1:n.2442+3032G>A | |
| ENST00000308177.4:c.2431-4160G>A (PCDHGC3) | ENSP00000312070.3:n.2431-4160G>A | |
| ENST00000394576.2:c.2425-4160G>A (PCDHGA2) | ENSP00000378077.2:n.2425-4160G>A | |
| ENST00000398587.6:c.2434-4160G>A (PCDHGA11) | ENSP00000381589.2:n.2434-4160G>A | |
| ENST00000398594.3:c.2416-4160G>A (PCDHGB7) | ENSP00000381594.2:n.2416-4160G>A | |
| ENST00000398604.2:c.2425-4160G>A (PCDHGA8) | ENSP00000381605.2:n.2425-4160G>A | |
| ENST00000398610.2:c.2437-4160G>A (PCDHGA10) | ENSP00000381611.2:n.2437-4160G>A | |
| ENST00000517417.2:c.2422-4160G>A (PCDHGA1) | ENSP00000431083.1:n.2422-4160G>A | |
| ENST00000517434.2:c.2425-4160G>A (PCDHGA6) | ENSP00000429601.1:n.2425-4160G>A | |
| ENST00000518069.1:c.2422-4160G>A (PCDHGA5) | ENSP00000429834.1:n.2422-4160G>A | |
| ENST00000518325.1:c.2425-4160G>A (PCDHGA7) | ENSP00000430024.1:n.2425-4160G>A | |
| ENST00000518882.2:c.1879-4160G>A (PCDHGA11) | ENSP00000428333.1:n.1879-4160G>A | |
| ENST00000519479.1:c.2398-4160G>A (PCDHGB4) | ENSP00000428288.1:n.2398-4160G>A | |
| ENST00000520790.1:c.2419-4160G>A (PCDHGB6) | ENSP00000428603.1:n.2419-4160G>A | |
| ENST00000522605.1:c.2422-4160G>A (PCDHGB2) | ENSP00000429018.1:n.2422-4160G>A | |
| ENST00000523390.1:c.2410-4160G>A (PCDHGB1) | ENSP00000429273.1:n.2410-4160G>A | |
| ENST00000571252.2:c.2515-4160G>A (PCDHGA4) | ENSP00000458570.2:n.2515-4160G>A | |
| ENST00000573521.1:c.2425-4160G>A (PCDHGA9) | ENSP00000460274.1:n.2425-4160G>A | |
| ENST00000576222.1:c.2416-4160G>A (PCDHGB3) | ENSP00000461862.1:n.2416-4160G>A | |
| ENST00000610789.1:c.1407G>A (PCDHGC5) | ENSP00000482569.1:p.Pro469= | |
| ENST00000612467.1:c.2328-4160G>A (PCDHGA3) | ENSP00000481801.1:n.2328-4160G>A | |
| ENST00000617222.4:c.184-4160G>A (PCDHGC3) | ENSP00000481673.1:n.184-4160G>A | |
| ENST00000617380.1:c.2398-4160G>A (PCDHGB5) | ENSP00000478258.1:n.2398-4160G>A | |
| ENST00000617641.4:c.31-4160G>A (PCDHGC3) | ENSP00000483383.1:n.31-4160G>A | |
| ENST00000618371.4:c.13-4160G>A (PCDHGC4) | ENSP00000478541.1:n.13-4160G>A | |
| ENST00000622656.1:n.297-4160G>A (PCDHGC3) | ||
| NM_002588.3:c.2431-4160G>A (PCDHGC3) | NP_002579.2:n.2431-4160G>A | |
| NM_003735.2:c.2425-4160G>A (PCDHGA12) | NP_003726.1:n.2425-4160G>A | |
| NM_003736.2:c.2398-4160G>A (PCDHGB4) | NP_003727.1:n.2398-4160G>A | |
| NM_018912.2:c.2422-4160G>A (PCDHGA1) | NP_061735.1:n.2422-4160G>A | |
| NM_018913.2:c.2437-4160G>A (PCDHGA10) | NP_061736.1:n.2437-4160G>A | |
| NM_018914.2:c.2434-4160G>A (PCDHGA11) | NP_061737.1:n.2434-4160G>A | |
| NM_018915.3:c.2425-4160G>A (PCDHGA2) | NP_061738.1:n.2425-4160G>A | |
| NM_018916.3:c.2425-4160G>A (PCDHGA3) | NP_061739.2:n.2425-4160G>A | |
| NM_018917.3:c.2515-4160G>A (PCDHGA4) | NP_061740.2:n.2515-4160G>A | |
| NM_018918.2:c.2422-4160G>A (PCDHGA5) | NP_061741.1:n.2422-4160G>A | |
| NM_018919.2:c.2425-4160G>A (PCDHGA6) | NP_061742.1:n.2425-4160G>A | |
| NM_018920.3:c.2425-4160G>A (PCDHGA7) | NP_061743.1:n.2425-4160G>A | |
| NM_018921.2:c.2425-4160G>A (PCDHGA9) | NP_061744.1:n.2425-4160G>A | |
| NM_018922.2:c.2410-4160G>A (PCDHGB1) | NP_061745.1:n.2410-4160G>A | |
| NM_018923.2:c.2422-4160G>A (PCDHGB2) | NP_061746.1:n.2422-4160G>A | |
| NM_018924.4:c.2416-4160G>A (PCDHGB3) | NP_061747.2:n.2416-4160G>A | |
| NM_018925.2:c.2398-4160G>A (PCDHGB5) | NP_061748.1:n.2398-4160G>A | |
| NM_018926.2:c.2419-4160G>A (PCDHGB6) | NP_061749.1:n.2419-4160G>A | |
| NM_018927.3:c.2416-4160G>A (PCDHGB7) | NP_061750.1:n.2416-4160G>A | |
| NM_018928.2:c.2442+3032G>A (PCDHGC4) | NP_061751.1:n.2442+3032G>A | |
| NM_018929.2:c.1407G>A (PCDHGC5) | NP_061752.1:p.Pro469= | |
| NM_032088.1:c.2425-4160G>A (PCDHGA8) | NP_114477.1:n.2425-4160G>A | |
| NM_032092.1:c.1879-4160G>A (PCDHGA11) | NP_114481.1:n.1879-4160G>A | |
| NM_032403.2:c.31-4160G>A (PCDHGC3) | NP_115779.1:n.31-4160G>A | |
| NM_032407.1:c.1407G>A (PCDHGC5) | NP_115783.1:p.Pro469= | |
| NM_002588.4:c.2431-4160G>A (PCDHGC3) MANE Select | NP_002579.2:n.2431-4160G>A | |
| NM_003735.3:c.2425-4160G>A (PCDHGA12) MANE Select | NP_003726.1:n.2425-4160G>A | |
| NM_018914.3:c.2434-4160G>A (PCDHGA11) MANE Select | NP_061737.1:n.2434-4160G>A | |
| NM_018915.4:c.2425-4160G>A (PCDHGA2) MANE Select | NP_061738.1:n.2425-4160G>A | |
| NM_018917.4:c.2515-4160G>A (PCDHGA4) MANE Select | NP_061740.2:n.2515-4160G>A | |
| NM_018920.4:c.2425-4160G>A (PCDHGA7) MANE Select | NP_061743.1:n.2425-4160G>A | |
| NM_018924.5:c.2416-4160G>A (PCDHGB3) MANE Select | NP_061747.2:n.2416-4160G>A | |
| NM_003736.3:c.2398-4160G>A (PCDHGB4) | NP_003727.1:n.2398-4160G>A | |
| NM_018916.4:c.2425-4160G>A (PCDHGA3) MANE Select | NP_061739.2:n.2425-4160G>A | |
| NM_018919.3:c.2425-4160G>A (PCDHGA6) MANE Select | NP_061742.1:n.2425-4160G>A | |
| NM_018927.4:c.2416-4160G>A (PCDHGB7) MANE Select | NP_061750.1:n.2416-4160G>A | |
| NM_018929.3:c.1407G>A (PCDHGC5) MANE Select | NP_061752.1:p.Pro469= | |
| NM_032092.2:c.1879-4160G>A (PCDHGA11) | NP_114481.1:n.1879-4160G>A | |
| NM_032403.3:c.31-4160G>A (PCDHGC3) | NP_115779.1:n.31-4160G>A | |
| NM_001386884.1:c.13-4160G>A (PCDHGC4) | NP_001373813.1:n.13-4160G>A | |
| NM_003736.4:c.2398-4160G>A (PCDHGB4) MANE Select | NP_003727.1:n.2398-4160G>A | |
| NM_018912.3:c.2422-4160G>A (PCDHGA1) MANE Select | NP_061735.1:n.2422-4160G>A | |
| NM_018913.3:c.2437-4160G>A (PCDHGA10) MANE Select | NP_061736.1:n.2437-4160G>A | |
| NM_018918.3:c.2422-4160G>A (PCDHGA5) MANE Select | NP_061741.1:n.2422-4160G>A | |
| NM_018921.3:c.2425-4160G>A (PCDHGA9) MANE Select | NP_061744.1:n.2425-4160G>A | |
| NM_018922.3:c.2410-4160G>A (PCDHGB1) MANE Select | NP_061745.1:n.2410-4160G>A | |
| NM_018923.3:c.2422-4160G>A (PCDHGB2) MANE Select | NP_061746.1:n.2422-4160G>A | |
| NM_018925.3:c.2398-4160G>A (PCDHGB5) MANE Select | NP_061748.1:n.2398-4160G>A | |
| NM_018926.3:c.2419-4160G>A (PCDHGB6) MANE Select | NP_061749.1:n.2419-4160G>A | |
| NM_018928.3:c.2442+3032G>A (PCDHGC4) MANE Select | NP_061751.1:n.2442+3032G>A | |
| NM_032088.2:c.2425-4160G>A (PCDHGA8) MANE Select | NP_114477.1:n.2425-4160G>A |