Canonical Allele Identifier: CA371308038

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777769C>A (hg19) ; chr8:g.60865210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865210C>A , CM000670.2:g.60865210C>A	GRCh38
NC_000008.10:g.61777769C>A , CM000670.1:g.61777769C>A	GRCh37
NC_000008.9:g.61940323C>A	NCBI36
NG_007009.1:g.191431C>A , LRG_176:g.191431C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1447C>A
ENST00000695852.1:n.378C>A
ENST00000695853.1:c.*1330C>A	ENSP00000512218.1:n.*1330C>A
ENST00000423902.7:c.8271C>A MANE Select	ENSP00000392028.1:p.Ser2757Arg
ENST00000423902.6:c.8271C>A	ENSP00000392028.1:p.Ser2757Arg
ENST00000524602.5:c.2124C>A	ENSP00000437061.1:p.Ser708Arg
ENST00000528280.1:n.317C>A
NM_001316690.1:c.2124C>A	NP_001303619.1:p.Ser708Arg
NM_017780.3:c.8271C>A	NP_060250.2:p.Ser2757Arg
XM_011517553.1:c.8361C>A	XP_011515855.1:p.Ser2787Arg
XM_011517554.1:c.8361C>A	XP_011515856.1:p.Ser2787Arg
XM_011517555.1:c.8358C>A	XP_011515857.1:p.Ser2786Arg
XM_011517556.1:c.8139C>A	XP_011515858.1:p.Ser2713Arg
XM_011517557.1:c.6348C>A	XP_011515859.1:p.Ser2116Arg
XM_011517558.1:c.5898C>A	XP_011515860.1:p.Ser1966Arg
XM_011517559.1:c.5106C>A	XP_011515861.1:p.Ser1702Arg
XM_011517553.2:c.8361C>A	XP_011515855.1:p.Ser2787Arg
XM_011517554.3:c.8361C>A	XP_011515856.1:p.Ser2787Arg
XM_011517555.2:c.8358C>A	XP_011515857.1:p.Ser2786Arg
XM_017013612.1:c.8361C>A	XP_016869101.1:p.Ser2787Arg
XM_017013613.1:c.8268C>A	XP_016869102.1:p.Ser2756Arg
NM_017780.4:c.8271C>A MANE Select	NP_060250.2:p.Ser2757Arg