Canonical Allele Identifier: CA461106136

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865435-T-C
• MyVariant Identifiers: chr8:g.61777994T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865435T>C , CM000670.2:g.60865435T>C	GRCh38
NC_000008.10:g.61777994T>C , CM000670.1:g.61777994T>C	GRCh37
NC_000008.9:g.61940548T>C	NCBI36
NG_007009.1:g.191656T>C , LRG_176:g.191656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1672T>C
ENST00000695852.1:n.603T>C
ENST00000695853.1:c.*1555T>C	ENSP00000512218.1:n.*1555T>C
ENST00000423902.7:c.8496T>C MANE Select	ENSP00000392028.1:p.Ser2832=
ENST00000423902.6:c.8496T>C	ENSP00000392028.1:p.Ser2832=
ENST00000524602.5:c.2349T>C	ENSP00000437061.1:p.Ser783=
ENST00000528280.1:n.542T>C
NM_001316690.1:c.2349T>C	NP_001303619.1:p.Ser783=
NM_017780.3:c.8496T>C	NP_060250.2:p.Ser2832=
XM_011517553.1:c.8586T>C	XP_011515855.1:p.Ser2862=
XM_011517554.1:c.8586T>C	XP_011515856.1:p.Ser2862=
XM_011517555.1:c.8583T>C	XP_011515857.1:p.Ser2861=
XM_011517556.1:c.8364T>C	XP_011515858.1:p.Ser2788=
XM_011517557.1:c.6573T>C	XP_011515859.1:p.Ser2191=
XM_011517558.1:c.6123T>C	XP_011515860.1:p.Ser2041=
XM_011517559.1:c.5331T>C	XP_011515861.1:p.Ser1777=
XM_011517553.2:c.8586T>C	XP_011515855.1:p.Ser2862=
XM_011517554.3:c.8586T>C	XP_011515856.1:p.Ser2862=
XM_011517555.2:c.8583T>C	XP_011515857.1:p.Ser2861=
XM_017013612.1:c.8586T>C	XP_016869101.1:p.Ser2862=
XM_017013613.1:c.8493T>C	XP_016869102.1:p.Ser2831=
NM_017780.4:c.8496T>C MANE Select	NP_060250.2:p.Ser2832=