Canonical Allele Identifier: CA371318353

Gene: CHD7

Linked Data

• gnomAD v4: 8-60838214-A-T
• MyVariant Identifiers: chr8:g.61750773A>T (hg19) ; chr8:g.60838214A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838214A>T , CM000670.2:g.60838214A>T	GRCh38
NC_000008.10:g.61750773A>T , CM000670.1:g.61750773A>T	GRCh37
NC_000008.9:g.61913327A>T	NCBI36
NG_007009.1:g.164435A>T , LRG_176:g.164435A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4492A>T	ENSP00000512218.1:p.Ile1498Phe
ENST00000423902.7:c.4492A>T MANE Select	ENSP00000392028.1:p.Ile1498Phe
ENST00000423902.6:c.4492A>T	ENSP00000392028.1:p.Ile1498Phe
ENST00000524602.5:c.1717-24015A>T	ENSP00000437061.1:n.1717-24015A>T
NM_001316690.1:c.1717-24015A>T	NP_001303619.1:n.1717-24015A>T
NM_017780.3:c.4492A>T	NP_060250.2:p.Ile1498Phe
XM_011517553.1:c.4492A>T	XP_011515855.1:p.Ile1498Phe
XM_011517554.1:c.4492A>T	XP_011515856.1:p.Ile1498Phe
XM_011517555.1:c.4492A>T	XP_011515857.1:p.Ile1498Phe
XM_011517556.1:c.4492A>T	XP_011515858.1:p.Ile1498Phe
XM_011517557.1:c.2479A>T	XP_011515859.1:p.Ile827Phe
XM_011517558.1:c.2029A>T	XP_011515860.1:p.Ile677Phe
XM_011517559.1:c.1237A>T	XP_011515861.1:p.Ile413Phe
XM_011517560.1:c.4492A>T	XP_011515862.1:p.Ile1498Phe
XM_011517553.2:c.4492A>T	XP_011515855.1:p.Ile1498Phe
XM_011517554.3:c.4492A>T	XP_011515856.1:p.Ile1498Phe
XM_011517555.2:c.4492A>T	XP_011515857.1:p.Ile1498Phe
XM_011517560.2:c.4492A>T	XP_011515862.1:p.Ile1498Phe
XM_017013612.1:c.4492A>T	XP_016869101.1:p.Ile1498Phe
XM_017013613.1:c.4492A>T	XP_016869102.1:p.Ile1498Phe
NM_017780.4:c.4492A>T MANE Select	NP_060250.2:p.Ile1498Phe