Canonical Allele Identifier: CA461105539

Gene: CHD7

Linked Data

• dbSNP Id: rs1805562311
• COSMIC: COSM2720128
• MyVariant Identifiers: chr8:g.61765932T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853373T>C , CM000670.2:g.60853373T>C	GRCh38
NC_000008.10:g.61765932T>C , CM000670.1:g.61765932T>C	GRCh37
NC_000008.9:g.61928486T>C	NCBI36
NG_007009.1:g.179594T>C , LRG_176:g.179594T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6648T>C	ENSP00000512218.1:p.Asn2216=
ENST00000423902.7:c.6648T>C MANE Select	ENSP00000392028.1:p.Asn2216=
ENST00000423902.6:c.6648T>C	ENSP00000392028.1:p.Asn2216=
ENST00000524602.5:c.1717-8856T>C	ENSP00000437061.1:n.1717-8856T>C
NM_001316690.1:c.1717-8856T>C	NP_001303619.1:n.1717-8856T>C
NM_017780.3:c.6648T>C	NP_060250.2:p.Asn2216=
XM_011517553.1:c.6738T>C	XP_011515855.1:p.Asn2246=
XM_011517554.1:c.6738T>C	XP_011515856.1:p.Asn2246=
XM_011517555.1:c.6738T>C	XP_011515857.1:p.Asn2246=
XM_011517556.1:c.6738T>C	XP_011515858.1:p.Asn2246=
XM_011517557.1:c.4725T>C	XP_011515859.1:p.Asn1575=
XM_011517558.1:c.4275T>C	XP_011515860.1:p.Asn1425=
XM_011517559.1:c.3483T>C	XP_011515861.1:p.Asn1161=
XM_011517553.2:c.6738T>C	XP_011515855.1:p.Asn2246=
XM_011517554.3:c.6738T>C	XP_011515856.1:p.Asn2246=
XM_011517555.2:c.6738T>C	XP_011515857.1:p.Asn2246=
XM_017013612.1:c.6738T>C	XP_016869101.1:p.Asn2246=
XM_017013613.1:c.6648T>C	XP_016869102.1:p.Asn2216=
NM_017780.4:c.6648T>C MANE Select	NP_060250.2:p.Asn2216=