Canonical Allele Identifier: CA10576249

Gene: CHD7

Linked Data

• ClinVar Variation Id: 226115
• ClinVar RCV Id: RCV000211558 ; RCV000623636 ; RCV001565316
• dbSNP Id: rs875989879
• MyVariant Identifiers: chr8:g.61765576C>T (hg19) ; chr8:g.60853017C>T (hg38)
• PubMed: PMID:10590394 ; PMID:14626219 ; PMID:15300250 ; PMID:15666308 ; PMID:16155193 ; PMID:16400610 ; PMID:17299439 ; PMID:17661815 ; PMID:18834967 ; PMID:20130577 ; PMID:20186815 ; PMID:21378379 ; PMID:21532573 ; PMID:22461308 ; PMID:22495309 ; PMID:22539353 ; PMID:23849776 ; PMID:23883829 ; PMID:25472840 ; PMID:26590800

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853017C>T , CM000670.2:g.60853017C>T	GRCh38
NC_000008.10:g.61765576C>T , CM000670.1:g.61765576C>T	GRCh37
NC_000008.9:g.61928130C>T	NCBI36
NG_007009.1:g.179238C>T , LRG_176:g.179238C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6292C>T	ENSP00000512218.1:p.Arg2098Ter
ENST00000423902.7:c.6292C>T MANE Select	ENSP00000392028.1:p.Arg2098Ter
ENST00000423902.6:c.6292C>T	ENSP00000392028.1:p.Arg2098Ter
ENST00000524602.5:c.1717-9212C>T	ENSP00000437061.1:n.1717-9212C>T
NM_001316690.1:c.1717-9212C>T	NP_001303619.1:n.1717-9212C>T
NM_017780.3:c.6292C>T	NP_060250.2:p.Arg2098Ter
XM_011517553.1:c.6382C>T	XP_011515855.1:p.Arg2128Ter
XM_011517554.1:c.6382C>T	XP_011515856.1:p.Arg2128Ter
XM_011517555.1:c.6382C>T	XP_011515857.1:p.Arg2128Ter
XM_011517556.1:c.6382C>T	XP_011515858.1:p.Arg2128Ter
XM_011517557.1:c.4369C>T	XP_011515859.1:p.Arg1457Ter
XM_011517558.1:c.3919C>T	XP_011515860.1:p.Arg1307Ter
XM_011517559.1:c.3127C>T	XP_011515861.1:p.Arg1043Ter
XM_011517553.2:c.6382C>T	XP_011515855.1:p.Arg2128Ter
XM_011517554.3:c.6382C>T	XP_011515856.1:p.Arg2128Ter
XM_011517555.2:c.6382C>T	XP_011515857.1:p.Arg2128Ter
XM_017013612.1:c.6382C>T	XP_016869101.1:p.Arg2128Ter
XM_017013613.1:c.6292C>T	XP_016869102.1:p.Arg2098Ter
NM_017780.4:c.6292C>T MANE Select	NP_060250.2:p.Arg2098Ter