Canonical Allele Identifier: CA4760602
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180998
ClinVar RCV Id: RCV002603103
dbSNP Id: rs761214775
gnomAD v2: 8-61765798-G-A
gnomAD v3: 8-60853239-G-A
gnomAD v4: 8-60853239-G-A
COSMIC: COSM751043

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60853239G>A , CM000670.2:g.60853239G>A GRCh38
NC_000008.10:g.61765798G>A , CM000670.1:g.61765798G>A GRCh37
NC_000008.9:g.61928352G>A NCBI36
NG_007009.1:g.179460G>A , LRG_176:g.179460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.6514G>A ENSP00000512218.1:p.Glu2172Lys
ENST00000423902.7:c.6514G>A MANE Select ENSP00000392028.1:p.Glu2172Lys
ENST00000423902.6:c.6514G>A ENSP00000392028.1:p.Glu2172Lys
ENST00000524602.5:c.1717-8990G>A ENSP00000437061.1:n.1717-8990G>A
NM_001316690.1:c.1717-8990G>A NP_001303619.1:n.1717-8990G>A
NM_017780.3:c.6514G>A NP_060250.2:p.Glu2172Lys
XM_011517553.1:c.6604G>A XP_011515855.1:p.Glu2202Lys
XM_011517554.1:c.6604G>A XP_011515856.1:p.Glu2202Lys
XM_011517555.1:c.6604G>A XP_011515857.1:p.Glu2202Lys
XM_011517556.1:c.6604G>A XP_011515858.1:p.Glu2202Lys
XM_011517557.1:c.4591G>A XP_011515859.1:p.Glu1531Lys
XM_011517558.1:c.4141G>A XP_011515860.1:p.Glu1381Lys
XM_011517559.1:c.3349G>A XP_011515861.1:p.Glu1117Lys
XM_011517553.2:c.6604G>A XP_011515855.1:p.Glu2202Lys
XM_011517554.3:c.6604G>A XP_011515856.1:p.Glu2202Lys
XM_011517555.2:c.6604G>A XP_011515857.1:p.Glu2202Lys
XM_017013612.1:c.6604G>A XP_016869101.1:p.Glu2202Lys
XM_017013613.1:c.6514G>A XP_016869102.1:p.Glu2172Lys
NM_017780.4:c.6514G>A MANE Select NP_060250.2:p.Glu2172Lys