Canonical Allele Identifier: CA6411419

Gene: CHD4

Linked Data

• ClinVar Variation Id: 266123
• ClinVar RCV Id: RCV000257639
• dbSNP Id: rs201992075
• ExAC: 12:6690297 C / T
• gnomAD v2: 12-6690297-C-T
• gnomAD v3: 12-6581131-C-T
• gnomAD v4: 12-6581131-C-T
• MyVariant Identifiers: chr12:g.6690297C>T (hg19) ; chr12:g.6581131C>T (hg38)
• PubMed: PMID:27479907

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6581131C>T , CM000674.2:g.6581131C>T	GRCh38
NC_000012.11:g.6690297C>T , CM000674.1:g.6690297C>T	GRCh37
NC_000012.10:g.6560558C>T	NCBI36
NG_052823.1:g.31309G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357008.7:c.4783G>A	ENSP00000349508.3:p.Val1595Ile
ENST00000544040.7:c.4822G>A MANE Select	ENSP00000440542.2:p.Val1608Ile
ENST00000544484.6:c.4897G>A	ENSP00000440392.1:p.Val1633Ile
ENST00000642594.1:c.4748G>A
ENST00000642637.1:c.1073G>A
ENST00000642810.1:c.*486G>A	ENSP00000495160.1:n.*486G>A
ENST00000642879.1:c.4846G>A	ENSP00000494456.1:p.Val1616Ile
ENST00000643335.1:c.4795G>A	ENSP00000496358.1:p.Val1599Ile
ENST00000643538.1:c.1357G>A	ENSP00000494571.1:p.Val453Ile
ENST00000643815.1:c.3536G>A
ENST00000644077.1:c.755G>A
ENST00000644137.1:c.4801G>A	ENSP00000495816.1:p.Val1601Ile
ENST00000644289.1:c.4873G>A	ENSP00000496707.1:p.Val1625Ile
ENST00000644352.1:c.2680G>A	ENSP00000494981.1:p.Val894Ile
ENST00000644356.1:n.2779G>A
ENST00000644480.2:c.4801G>A	ENSP00000493629.2:p.Val1601Ile
ENST00000644652.1:c.96G>A
ENST00000644801.1:c.*1582G>A	ENSP00000496660.1:n.*1582G>A
ENST00000645005.1:c.4822G>A	ENSP00000493471.1:p.Val1608Ile
ENST00000645022.1:c.4801G>A	ENSP00000496163.1:p.Val1601Ile
ENST00000645095.1:c.4906G>A	ENSP00000496634.1:p.Val1636Ile
ENST00000645645.1:c.4783G>A	ENSP00000496543.1:p.Val1595Ile
ENST00000646268.1:c.*486G>A	ENSP00000495023.1:n.*486G>A
ENST00000646322.1:c.9+6253G>A	ENSP00000494949.1:n.9+6253G>A
ENST00000646360.1:n.1094G>A
ENST00000646366.1:n.4402G>A
ENST00000646462.1:c.893G>A
ENST00000646608.1:c.3747G>A
ENST00000646806.1:c.4762G>A	ENSP00000494574.1:p.Val1588Ile
ENST00000647483.1:c.2871G>A
ENST00000647535.1:n.1692G>A
ENST00000357008.6:c.4822G>A	ENSP00000349508.2:p.Val1608Ile
ENST00000536301.1:n.52G>A
ENST00000542717.1:n.40G>A
ENST00000544040.5:c.4801G>A	ENSP00000440542.1:p.Val1601Ile
ENST00000544484.5:c.4897G>A	ENSP00000440392.1:p.Val1633Ile
NM_001273.3:c.4822G>A	NP_001264.2:p.Val1608Ile
NM_001297553.1:c.4801G>A	NP_001284482.1:p.Val1601Ile
XM_005253668.3:c.4801G>A	XP_005253725.1:p.Val1601Ile
XM_006718958.1:c.4906G>A	XP_006719021.1:p.Val1636Ile
XM_006718959.1:c.4822G>A	XP_006719022.1:p.Val1608Ile
XM_006718960.1:c.4819G>A	XP_006719023.1:p.Val1607Ile
XM_006718961.2:c.4801G>A	XP_006719024.1:p.Val1601Ile
XM_006718962.1:c.4783G>A	XP_006719025.1:p.Val1595Ile
NM_001273.4:c.4822G>A	NP_001264.2:p.Val1608Ile
NM_001297553.2:c.4801G>A	NP_001284482.1:p.Val1601Ile
NM_001363606.1:c.4783G>A	NP_001350535.1:p.Val1595Ile
XM_017018725.1:c.4822G>A	XP_016874214.1:p.Val1608Ile
XM_017018726.1:c.4822G>A	XP_016874215.1:p.Val1608Ile
XM_017018727.1:c.4819G>A	XP_016874216.1:p.Val1607Ile
XM_017018728.1:c.4819G>A	XP_016874217.1:p.Val1607Ile
XM_017018729.1:c.4801G>A	XP_016874218.1:p.Val1601Ile
XM_017018730.1:c.4783G>A	XP_016874219.1:p.Val1595Ile
XM_017018731.1:c.4783G>A	XP_016874220.1:p.Val1595Ile
XM_017018732.1:c.4762G>A	XP_016874221.1:p.Val1588Ile
XM_017018733.1:c.4762G>A	XP_016874222.1:p.Val1588Ile
XM_017018734.1:c.4762G>A	XP_016874223.1:p.Val1588Ile
XM_024448802.1:c.4906G>A	XP_024304570.1:p.Val1636Ile
XM_024448803.1:c.4885G>A	XP_024304571.1:p.Val1629Ile
XM_024448804.1:c.4867G>A	XP_024304572.1:p.Val1623Ile
XM_024448805.1:c.4846G>A	XP_024304573.1:p.Val1616Ile
NM_001273.5:c.4822G>A MANE Select	NP_001264.2:p.Val1608Ile
NM_001363606.2:c.4783G>A	NP_001350535.1:p.Val1595Ile