Canonical Allele Identifier: CA461105853

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777736G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865177G>T , CM000670.2:g.60865177G>T	GRCh38
NC_000008.10:g.61777736G>T , CM000670.1:g.61777736G>T	GRCh37
NC_000008.9:g.61940290G>T	NCBI36
NG_007009.1:g.191398G>T , LRG_176:g.191398G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1414G>T
ENST00000695852.1:n.345G>T
ENST00000695853.1:c.*1297G>T	ENSP00000512218.1:n.*1297G>T
ENST00000423902.7:c.8238G>T MANE Select	ENSP00000392028.1:p.Val2746=
ENST00000423902.6:c.8238G>T	ENSP00000392028.1:p.Val2746=
ENST00000524602.5:c.2091G>T	ENSP00000437061.1:p.Val697=
ENST00000528280.1:n.284G>T
NM_001316690.1:c.2091G>T	NP_001303619.1:p.Val697=
NM_017780.3:c.8238G>T	NP_060250.2:p.Val2746=
XM_011517553.1:c.8328G>T	XP_011515855.1:p.Val2776=
XM_011517554.1:c.8328G>T	XP_011515856.1:p.Val2776=
XM_011517555.1:c.8325G>T	XP_011515857.1:p.Val2775=
XM_011517556.1:c.8106G>T	XP_011515858.1:p.Val2702=
XM_011517557.1:c.6315G>T	XP_011515859.1:p.Val2105=
XM_011517558.1:c.5865G>T	XP_011515860.1:p.Val1955=
XM_011517559.1:c.5073G>T	XP_011515861.1:p.Val1691=
XM_011517553.2:c.8328G>T	XP_011515855.1:p.Val2776=
XM_011517554.3:c.8328G>T	XP_011515856.1:p.Val2776=
XM_011517555.2:c.8325G>T	XP_011515857.1:p.Val2775=
XM_017013612.1:c.8328G>T	XP_016869101.1:p.Val2776=
XM_017013613.1:c.8235G>T	XP_016869102.1:p.Val2745=
NM_017780.4:c.8238G>T MANE Select	NP_060250.2:p.Val2746=