Canonical Allele Identifier: CA3454461

Gene: PCDHAC1 PCDHAC2 PCDHA13 PCDHA10 PCDHA12 PCDHA11 PCDHA1 PCDHA3 PCDHA7 PCDHA2 PCDHA6 PCDHA5 PCDHA4 PCDHA8 PCDHA9

Linked Data

• ClinVar Variation Id: 279578
• ClinVar RCV Id: RCV000508600
• dbSNP Id: rs150254638
• ExAC: 5:140358559 G / A
• gnomAD v2: 5-140358559-G-A
• gnomAD v3: 5-140978974-G-A
• gnomAD v4: 5-140978974-G-A
• MyVariant Identifiers: chr5:g.140358559G>A (hg19) ; chr5:g.140978974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140978974G>A , CM000667.2:g.140978974G>A	GRCh38
NC_000005.9:g.140358559G>A , CM000667.1:g.140358559G>A	GRCh37
NC_000005.8:g.140338743G>A	NCBI36
NG_050672.1:g.57258G>A
NG_050674.1:g.128092G>A
NG_050675.1:g.182777G>A
NG_050677.1:g.189116G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253807.3:c.2459G>A (PCDHAC1) MANE Select	ENSP00000253807.2:p.Arg820His
ENST00000289269.7:c.2591G>A (PCDHAC2) MANE Select	ENSP00000289269.5:p.Arg864His
ENST00000289272.3:c.2420G>A (PCDHA13) MANE Select	ENSP00000289272.2:p.Arg807His
ENST00000307360.6:c.2414G>A (PCDHA10) MANE Select	ENSP00000304234.5:p.Arg805His
ENST00000398631.3:c.2393G>A (PCDHA12) MANE Select	ENSP00000381628.2:p.Arg798His
ENST00000398640.7:c.2417G>A (PCDHA11) MANE Select	ENSP00000381636.3:p.Arg806His
ENST00000504120.4:c.2420G>A (PCDHA1) MANE Select	ENSP00000420840.3:p.Arg807His
ENST00000522353.3:c.2420G>A (PCDHA3) MANE Select	ENSP00000429808.2:p.Arg807His
ENST00000525929.2:c.2381G>A (PCDHA7) MANE Select	ENSP00000436426.1:p.Arg794His
ENST00000526136.2:c.2414G>A (PCDHA2) MANE Select	ENSP00000431748.1:p.Arg805His
ENST00000529310.6:c.2420G>A (PCDHA6) MANE Select	ENSP00000433378.1:p.Arg807His
ENST00000529859.2:c.2378G>A (PCDHA5) MANE Select	ENSP00000436557.1:p.Arg793His
ENST00000530339.2:c.2411G>A (PCDHA4) MANE Select	ENSP00000435300.1:p.Arg804His
ENST00000531613.2:c.2420G>A (PCDHA8) MANE Select	ENSP00000434655.1:p.Arg807His
ENST00000532602.2:c.2420G>A (PCDHA9) MANE Select	ENSP00000436042.2:p.Arg807His
ENST00000673403.1:c.2393G>A (PCDHA12)	ENSP00000500277.1:p.Arg798His
ENST00000673459.1:c.369G>A (PCDHA10)
ENST00000253807.2:c.2459G>A (PCDHAC1)	ENSP00000253807.2:p.Arg820His
ENST00000289269.6:c.2591G>A (PCDHAC2)	ENSP00000289269.5:p.Arg864His
ENST00000289272.2:c.2420G>A (PCDHA13)	ENSP00000289272.2:p.Arg807His
ENST00000307360.5:c.2414G>A (PCDHA10)	ENSP00000304234.5:p.Arg805His
ENST00000394633.7:c.1628G>A (PCDHA1)	ENSP00000378129.3:p.Arg543His
ENST00000398631.2:c.2393G>A (PCDHA12)	ENSP00000381628.2:p.Arg798His
ENST00000398640.6:c.2417G>A (PCDHA11)	ENSP00000381636.2:p.Arg806His
ENST00000409494.5:c.2420G>A (PCDHA13)	ENSP00000386821.1:p.Arg807His
ENST00000504120.3:c.2420G>A (PCDHA1)	ENSP00000420840.2:p.Arg807His
ENST00000506939.6:c.1625G>A (PCDHA10)	ENSP00000421030.2:p.Arg542His
ENST00000512229.6:c.2411G>A (PCDHA4)	ENSP00000423470.2:p.Arg804His
ENST00000522353.2:c.2420G>A (PCDHA3)	ENSP00000429808.2:p.Arg807His
ENST00000525929.1:c.2381G>A (PCDHA7)	ENSP00000436426.1:p.Arg794His
ENST00000526136.1:c.2414G>A (PCDHA2)	ENSP00000431748.1:p.Arg805His
ENST00000527624.1:c.1628G>A (PCDHA6)	ENSP00000434113.1:p.Arg543His
ENST00000529310.5:c.2420G>A (PCDHA6)	ENSP00000433378.1:p.Arg807His
ENST00000529619.5:c.2378G>A (PCDHA5)	ENSP00000433416.1:p.Arg793His
ENST00000529859.1:c.2378G>A (PCDHA5)	ENSP00000436557.1:p.Arg793His
ENST00000530339.1:c.2411G>A (PCDHA4)	ENSP00000435300.1:p.Arg804His
ENST00000531613.1:c.2420G>A (PCDHA8)	ENSP00000434655.1:p.Arg807His
ENST00000532602.1:c.2420G>A (PCDHA9)	ENSP00000436042.1:p.Arg807His
ENST00000617408.1:c.303G>A (PCDHA11)
NM_018898.3:c.2459G>A (PCDHAC1)	NP_061721.2:p.Arg820His
NM_018899.5:c.2591G>A (PCDHAC2)	NP_061722.1:p.Arg864His
NM_018900.3:c.2420G>A (PCDHA1)	NP_061723.1:p.Arg807His
NM_018901.3:c.2414G>A (PCDHA10)	NP_061724.1:p.Arg805His
NM_018902.4:c.2417G>A (PCDHA11)	NP_061725.1:p.Arg806His
NM_018903.3:c.2393G>A (PCDHA12)	NP_061726.1:p.Arg798His
NM_018904.2:c.2420G>A (PCDHA13)	NP_061727.1:p.Arg807His
NM_018905.2:c.2414G>A (PCDHA2)	NP_061728.1:p.Arg805His
NM_018906.2:c.2420G>A (PCDHA3)	NP_061729.1:p.Arg807His
NM_018907.3:c.2411G>A (PCDHA4)	NP_061730.1:p.Arg804His
NM_018908.2:c.2378G>A (PCDHA5)	NP_061731.1:p.Arg793His
NM_018909.3:c.2420G>A (PCDHA6)	NP_061732.1:p.Arg807His
NM_018910.2:c.2381G>A (PCDHA7)	NP_061733.1:p.Arg794His
NM_018911.2:c.2420G>A (PCDHA8)	NP_061734.1:p.Arg807His
NM_031411.2:c.1628G>A (PCDHA1)	NP_113599.1:p.Arg543His
NM_031849.2:c.1628G>A (PCDHA6)	NP_114037.1:p.Arg543His
NM_031857.1:c.2420G>A (PCDHA9)	NP_114063.1:p.Arg807His
NM_031860.2:c.1625G>A (PCDHA10)	NP_114066.1:p.Arg542His
NM_018899.6:c.2591G>A (PCDHAC2) MANE Select	NP_061722.1:p.Arg864His
NM_018901.4:c.2414G>A (PCDHA10) MANE Select	NP_061724.1:p.Arg805His
NM_018903.4:c.2393G>A (PCDHA12) MANE Select	NP_061726.1:p.Arg798His
NM_018904.3:c.2420G>A (PCDHA13) MANE Select	NP_061727.1:p.Arg807His
NM_018905.3:c.2414G>A (PCDHA2) MANE Select	NP_061728.1:p.Arg805His
NM_018906.3:c.2420G>A (PCDHA3) MANE Select	NP_061729.1:p.Arg807His
NM_018907.4:c.2411G>A (PCDHA4) MANE Select	NP_061730.1:p.Arg804His
NM_018908.3:c.2378G>A (PCDHA5) MANE Select	NP_061731.1:p.Arg793His
NM_018909.4:c.2420G>A (PCDHA6) MANE Select	NP_061732.1:p.Arg807His
NM_018910.3:c.2381G>A (PCDHA7) MANE Select	NP_061733.1:p.Arg794His
NM_018911.3:c.2420G>A (PCDHA8) MANE Select	NP_061734.1:p.Arg807His
NM_018898.5:c.2459G>A (PCDHAC1) MANE Select	NP_061721.2:p.Arg820His
NM_018900.4:c.2420G>A (PCDHA1) MANE Select	NP_061723.1:p.Arg807His
NM_018902.5:c.2417G>A (PCDHA11) MANE Select	NP_061725.1:p.Arg806His
NM_031411.3:c.1628G>A (PCDHA1)	NP_113599.1:p.Arg543His
NM_031849.3:c.1628G>A (PCDHA6)	NP_114037.1:p.Arg543His
NM_031857.2:c.2420G>A (PCDHA9) MANE Select	NP_114063.1:p.Arg807His
NM_031860.3:c.1625G>A (PCDHA10)	NP_114066.1:p.Arg542His