Canonical Allele Identifier: CA4760561

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2882668
• ClinVar RCV Id: RCV003602820
• dbSNP Id: rs368807380
• ExAC: 8:61765545 G / A
• gnomAD v2: 8-61765545-G-A
• gnomAD v3: 8-60852986-G-A
• gnomAD v4: 8-60852986-G-A
• MyVariant Identifiers: chr8:g.61765545G>A (hg19) ; chr8:g.60852986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852986G>A , CM000670.2:g.60852986G>A	GRCh38
NC_000008.10:g.61765545G>A , CM000670.1:g.61765545G>A	GRCh37
NC_000008.9:g.61928099G>A	NCBI36
NG_007009.1:g.179207G>A , LRG_176:g.179207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6261G>A	ENSP00000512218.1:p.Leu2087=
ENST00000423902.7:c.6261G>A MANE Select	ENSP00000392028.1:p.Leu2087=
ENST00000423902.6:c.6261G>A	ENSP00000392028.1:p.Leu2087=
ENST00000524602.5:c.1717-9243G>A	ENSP00000437061.1:n.1717-9243G>A
NM_001316690.1:c.1717-9243G>A	NP_001303619.1:n.1717-9243G>A
NM_017780.3:c.6261G>A	NP_060250.2:p.Leu2087=
XM_011517553.1:c.6351G>A	XP_011515855.1:p.Leu2117=
XM_011517554.1:c.6351G>A	XP_011515856.1:p.Leu2117=
XM_011517555.1:c.6351G>A	XP_011515857.1:p.Leu2117=
XM_011517556.1:c.6351G>A	XP_011515858.1:p.Leu2117=
XM_011517557.1:c.4338G>A	XP_011515859.1:p.Leu1446=
XM_011517558.1:c.3888G>A	XP_011515860.1:p.Leu1296=
XM_011517559.1:c.3096G>A	XP_011515861.1:p.Leu1032=
XM_011517553.2:c.6351G>A	XP_011515855.1:p.Leu2117=
XM_011517554.3:c.6351G>A	XP_011515856.1:p.Leu2117=
XM_011517555.2:c.6351G>A	XP_011515857.1:p.Leu2117=
XM_017013612.1:c.6351G>A	XP_016869101.1:p.Leu2117=
XM_017013613.1:c.6261G>A	XP_016869102.1:p.Leu2087=
NM_017780.4:c.6261G>A MANE Select	NP_060250.2:p.Leu2087=