Canonical Allele Identifier: CA177329126

Gene: CHD7

Linked Data

• dbSNP Id: rs573554562
• gnomAD v2: 8-61777639-C-A
• gnomAD v4: 8-60865080-C-A
• MyVariant Identifiers: chr8:g.61777639C>A (hg19) ; chr8:g.60865080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865080C>A , CM000670.2:g.60865080C>A	GRCh38
NC_000008.10:g.61777639C>A , CM000670.1:g.61777639C>A	GRCh37
NC_000008.9:g.61940193C>A	NCBI36
NG_007009.1:g.191301C>A , LRG_176:g.191301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1317C>A
ENST00000695852.1:n.248C>A
ENST00000695853.1:c.*1200C>A	ENSP00000512218.1:n.*1200C>A
ENST00000423902.7:c.8141C>A MANE Select	ENSP00000392028.1:p.Ala2714Glu
ENST00000423902.6:c.8141C>A	ENSP00000392028.1:p.Ala2714Glu
ENST00000524602.5:c.1994C>A	ENSP00000437061.1:p.Ala665Glu
ENST00000528280.1:n.187C>A
ENST00000532149.1:n.563C>A
ENST00000618450.1:n.4177C>A
NM_001316690.1:c.1994C>A	NP_001303619.1:p.Ala665Glu
NM_017780.3:c.8141C>A	NP_060250.2:p.Ala2714Glu
XM_011517553.1:c.8231C>A	XP_011515855.1:p.Ala2744Glu
XM_011517554.1:c.8231C>A	XP_011515856.1:p.Ala2744Glu
XM_011517555.1:c.8228C>A	XP_011515857.1:p.Ala2743Glu
XM_011517556.1:c.8009C>A	XP_011515858.1:p.Ala2670Glu
XM_011517557.1:c.6218C>A	XP_011515859.1:p.Ala2073Glu
XM_011517558.1:c.5768C>A	XP_011515860.1:p.Ala1923Glu
XM_011517559.1:c.4976C>A	XP_011515861.1:p.Ala1659Glu
XM_011517553.2:c.8231C>A	XP_011515855.1:p.Ala2744Glu
XM_011517554.3:c.8231C>A	XP_011515856.1:p.Ala2744Glu
XM_011517555.2:c.8228C>A	XP_011515857.1:p.Ala2743Glu
XM_017013612.1:c.8231C>A	XP_016869101.1:p.Ala2744Glu
XM_017013613.1:c.8138C>A	XP_016869102.1:p.Ala2713Glu
NM_017780.4:c.8141C>A MANE Select	NP_060250.2:p.Ala2714Glu