Canonical Allele Identifier: CA4760555
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 652922
ClinVar RCV Id: RCV000808593
dbSNP Id: rs377497122
gnomAD v2: 8-61765520-A-C
gnomAD v3: 8-60852961-A-C
gnomAD v4: 8-60852961-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60852961A>C , CM000670.2:g.60852961A>C GRCh38
NC_000008.10:g.61765520A>C , CM000670.1:g.61765520A>C GRCh37
NC_000008.9:g.61928074A>C NCBI36
NG_007009.1:g.179182A>C , LRG_176:g.179182A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.6236A>C ENSP00000512218.1:p.Lys2079Thr
ENST00000423902.7:c.6236A>C MANE Select ENSP00000392028.1:p.Lys2079Thr
ENST00000423902.6:c.6236A>C ENSP00000392028.1:p.Lys2079Thr
ENST00000524602.5:c.1717-9268A>C ENSP00000437061.1:n.1717-9268A>C
NM_001316690.1:c.1717-9268A>C NP_001303619.1:n.1717-9268A>C
NM_017780.3:c.6236A>C NP_060250.2:p.Lys2079Thr
XM_011517553.1:c.6326A>C XP_011515855.1:p.Lys2109Thr
XM_011517554.1:c.6326A>C XP_011515856.1:p.Lys2109Thr
XM_011517555.1:c.6326A>C XP_011515857.1:p.Lys2109Thr
XM_011517556.1:c.6326A>C XP_011515858.1:p.Lys2109Thr
XM_011517557.1:c.4313A>C XP_011515859.1:p.Lys1438Thr
XM_011517558.1:c.3863A>C XP_011515860.1:p.Lys1288Thr
XM_011517559.1:c.3071A>C XP_011515861.1:p.Lys1024Thr
XM_011517553.2:c.6326A>C XP_011515855.1:p.Lys2109Thr
XM_011517554.3:c.6326A>C XP_011515856.1:p.Lys2109Thr
XM_011517555.2:c.6326A>C XP_011515857.1:p.Lys2109Thr
XM_017013612.1:c.6326A>C XP_016869101.1:p.Lys2109Thr
XM_017013613.1:c.6236A>C XP_016869102.1:p.Lys2079Thr
NM_017780.4:c.6236A>C MANE Select NP_060250.2:p.Lys2079Thr