Canonical Allele Identifier: CA005019

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67229
• ClinVar RCV Id: RCV000057939 ; RCV000181805 ; RCV000619406 ; RCV001390277
• dbSNP Id: rs199472921
• gnomAD v2: 7-150648800-C-T
• gnomAD v4: 7-150951712-C-T
• COSMIC: COSM6382433 ; COSM6382434 ; COSM6382435
• MyVariant Identifiers: chr7:g.150648800C>T (hg19) ; chr7:g.150951712C>T (hg38)
• PubMed: PMID:7889573 ; PMID:8877771 ; PMID:10220144 ; PMID:10973849 ; PMID:11136691 ; PMID:11222472 ; PMID:11854117 ; PMID:12925462 ; PMID:15120823 ; PMID:15280442 ; PMID:15828882 ; PMID:15840476 ; PMID:16253912 ; PMID:16379539 ; PMID:16414944 ; PMID:16432067 ; PMID:16926178 ; PMID:17210839 ; PMID:18441445 ; PMID:18808722 ; PMID:18835466 ; PMID:19716085 ; PMID:20197117 ; PMID:21130771 ; PMID:21367833 ; PMID:22581653 ; PMID:23470493 ; PMID:24400717 ; PMID:24623279 ; PMID:25974115 ; PMID:26669661 ; PMID:27251404 ; PMID:27761161

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951712C>T , CM000669.2:g.150951712C>T	GRCh38
NC_000007.13:g.150648800C>T , CM000669.1:g.150648800C>T	GRCh37
NC_000007.12:g.150279733C>T	NCBI36
NG_008916.1:g.31215G>A , LRG_288:g.31215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.979G>A
ENST00000684241.1:n.2514G>A
ENST00000262186.10:c.1681G>A MANE Select	ENSP00000262186.5:p.Ala561Thr
ENST00000330883.9:c.661G>A	ENSP00000328531.4:p.Ala221Thr
ENST00000262186.9:c.1681G>A	ENSP00000262186.5:p.Ala561Thr
ENST00000330883.8:c.661G>A	ENSP00000328531.4:p.Ala221Thr
ENST00000430723.4:c.1333G>A	ENSP00000387657.4:p.Ala445Thr
ENST00000461280.1:n.968G>A
ENST00000473610.5:n.986G>A
ENST00000532957.5:n.1904G>A
NM_000238.3:c.1681G>A , LRG_288t1:c.1681G>A	NP_000229.1:p.Ala561Thr
NM_001204798.1:c.661G>A	NP_001191727.1:p.Ala221Thr
NM_172056.2:c.1681G>A , LRG_288t2:c.1681G>A	NP_742053.1:p.Ala561Thr
NM_172057.2:c.661G>A , LRG_288t3:c.661G>A	NP_742054.1:p.Ala221Thr
XM_011516185.1:c.1381G>A	XP_011514487.1:p.Ala461Thr
XM_011516186.1:c.1681G>A	XP_011514488.1:p.Ala561Thr
XM_011516185.2:c.1381G>A	XP_011514487.1:p.Ala461Thr
XM_011516186.3:c.1681G>A	XP_011514488.1:p.Ala561Thr
XM_017012195.1:c.1531G>A	XP_016867684.1:p.Ala511Thr
XM_017012196.1:c.1504G>A	XP_016867685.1:p.Ala502Thr
NM_000238.4:c.1681G>A MANE Select	NP_000229.1:p.Ala561Thr
NM_001204798.2:c.661G>A	NP_001191727.1:p.Ala221Thr
NM_172057.3:c.661G>A	NP_742054.1:p.Ala221Thr