Canonical Allele Identifier: CA371304465

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773545A>T (hg19) ; chr8:g.60860986A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860986A>T , CM000670.2:g.60860986A>T	GRCh38
NC_000008.10:g.61773545A>T , CM000670.1:g.61773545A>T	GRCh37
NC_000008.9:g.61936099A>T	NCBI36
NG_007009.1:g.187207A>T , LRG_176:g.187207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.867A>T
ENST00000695851.1:n.71A>T
ENST00000695853.1:c.*750A>T	ENSP00000512218.1:n.*750A>T
ENST00000423902.7:c.7691A>T MANE Select	ENSP00000392028.1:p.Asp2564Val
ENST00000423902.6:c.7691A>T	ENSP00000392028.1:p.Asp2564Val
ENST00000524602.5:c.1717-1243A>T	ENSP00000437061.1:n.1717-1243A>T
ENST00000531695.1:n.115A>T
ENST00000618450.1:n.83A>T
NM_001316690.1:c.1717-1243A>T	NP_001303619.1:n.1717-1243A>T
NM_017780.3:c.7691A>T	NP_060250.2:p.Asp2564Val
XM_011517553.1:c.7781A>T	XP_011515855.1:p.Asp2594Val
XM_011517554.1:c.7781A>T	XP_011515856.1:p.Asp2594Val
XM_011517555.1:c.7778A>T	XP_011515857.1:p.Asp2593Val
XM_011517556.1:c.7699-1210A>T	XP_011515858.1:n.7699-1210A>T
XM_011517557.1:c.5768A>T	XP_011515859.1:p.Asp1923Val
XM_011517558.1:c.5318A>T	XP_011515860.1:p.Asp1773Val
XM_011517559.1:c.4526A>T	XP_011515861.1:p.Asp1509Val
XM_011517553.2:c.7781A>T	XP_011515855.1:p.Asp2594Val
XM_011517554.3:c.7781A>T	XP_011515856.1:p.Asp2594Val
XM_011517555.2:c.7778A>T	XP_011515857.1:p.Asp2593Val
XM_017013612.1:c.7781A>T	XP_016869101.1:p.Asp2594Val
XM_017013613.1:c.7688A>T	XP_016869102.1:p.Asp2563Val
NM_017780.4:c.7691A>T MANE Select	NP_060250.2:p.Asp2564Val