Canonical Allele Identifier: CA008681

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 180379
• ClinVar RCV Id: RCV000157258 ; RCV000412861 ; RCV000545572 ; RCV002362837
• dbSNP Id: rs730880116
• gnomAD v4: 7-150958290-C-A
• MyVariant Identifiers: chr7:g.150655378C>A (hg19) ; chr7:g.150958290C>A (hg38)
• PubMed: PMID:15840476 ; PMID:16818214 ; PMID:18752142 ; PMID:19716085

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958290C>A , CM000669.2:g.150958290C>A	GRCh38
NC_000007.13:g.150655378C>A , CM000669.1:g.150655378C>A	GRCh37
NC_000007.12:g.150286311C>A	NCBI36
NG_008916.1:g.24637G>T , LRG_288:g.24637G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1518G>T
ENST00000262186.10:c.685G>T MANE Select	ENSP00000262186.5:p.Glu229Ter
ENST00000262186.9:c.685G>T	ENSP00000262186.5:p.Glu229Ter
ENST00000430723.4:c.337G>T	ENSP00000387657.4:p.Glu113Ter
ENST00000532957.5:n.908G>T
NM_000238.3:c.685G>T , LRG_288t1:c.685G>T	NP_000229.1:p.Glu229Ter
NM_172056.2:c.685G>T , LRG_288t2:c.685G>T	NP_742053.1:p.Glu229Ter
XM_011516185.1:c.385G>T	XP_011514487.1:p.Glu129Ter
XM_011516186.1:c.685G>T	XP_011514488.1:p.Glu229Ter
XM_011516185.2:c.385G>T	XP_011514487.1:p.Glu129Ter
XM_011516186.3:c.685G>T	XP_011514488.1:p.Glu229Ter
XM_017012195.1:c.535G>T	XP_016867684.1:p.Glu179Ter
XM_017012196.1:c.508G>T	XP_016867685.1:p.Glu170Ter
NM_000238.4:c.685G>T MANE Select	NP_000229.1:p.Glu229Ter