Canonical Allele Identifier: CA10581478

Gene: CHD7

Linked Data

• ClinVar Variation Id: 235889
• ClinVar RCV Id: RCV001731455 ; RCV003417801
• dbSNP Id: rs121434341
• MyVariant Identifiers: chr8:g.61768552C>T (hg19) ; chr8:g.60855993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60855993C>T , CM000670.2:g.60855993C>T	GRCh38
NC_000008.10:g.61768552C>T , CM000670.1:g.61768552C>T	GRCh37
NC_000008.9:g.61931106C>T	NCBI36
NG_007009.1:g.182214C>T , LRG_176:g.182214C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.131C>T
ENST00000695853.1:c.*14C>T	ENSP00000512218.1:n.*14C>T
ENST00000423902.7:c.6955C>T MANE Select	ENSP00000392028.1:p.Arg2319Cys
ENST00000423902.6:c.6955C>T	ENSP00000392028.1:p.Arg2319Cys
ENST00000524602.5:c.1717-6236C>T	ENSP00000437061.1:n.1717-6236C>T
ENST00000529472.1:n.136C>T
NM_001316690.1:c.1717-6236C>T	NP_001303619.1:n.1717-6236C>T
NM_017780.3:c.6955C>T	NP_060250.2:p.Arg2319Cys
XM_011517553.1:c.7045C>T	XP_011515855.1:p.Arg2349Cys
XM_011517554.1:c.7045C>T	XP_011515856.1:p.Arg2349Cys
XM_011517555.1:c.7042C>T	XP_011515857.1:p.Arg2348Cys
XM_011517556.1:c.7045C>T	XP_011515858.1:p.Arg2349Cys
XM_011517557.1:c.5032C>T	XP_011515859.1:p.Arg1678Cys
XM_011517558.1:c.4582C>T	XP_011515860.1:p.Arg1528Cys
XM_011517559.1:c.3790C>T	XP_011515861.1:p.Arg1264Cys
XM_011517553.2:c.7045C>T	XP_011515855.1:p.Arg2349Cys
XM_011517554.3:c.7045C>T	XP_011515856.1:p.Arg2349Cys
XM_011517555.2:c.7042C>T	XP_011515857.1:p.Arg2348Cys
XM_017013612.1:c.7045C>T	XP_016869101.1:p.Arg2349Cys
XM_017013613.1:c.6952C>T	XP_016869102.1:p.Arg2318Cys
NM_017780.4:c.6955C>T MANE Select	NP_060250.2:p.Arg2319Cys