Canonical Allele Identifier: CA005621

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 29778
• ClinVar RCV Id: RCV000022644 ; RCV000058006
• dbSNP Id: rs199472942
• MyVariant Identifiers: chr7:g.150648650A>G (hg19) ; chr7:g.150951562A>G (hg38)
• PubMed: PMID:9024139 ; PMID:9694858 ; PMID:11668638 ; PMID:15760896 ; PMID:16432067 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951562A>G , CM000669.2:g.150951562A>G	GRCh38
NC_000007.13:g.150648650A>G , CM000669.1:g.150648650A>G	GRCh37
NC_000007.12:g.150279583A>G	NCBI36
NG_008916.1:g.31365T>C , LRG_288:g.31365T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1129T>C
ENST00000684241.1:n.2664T>C
ENST00000262186.10:c.1831T>C MANE Select	ENSP00000262186.5:p.Tyr611His
ENST00000330883.9:c.811T>C	ENSP00000328531.4:p.Tyr271His
ENST00000262186.9:c.1831T>C	ENSP00000262186.5:p.Tyr611His
ENST00000330883.8:c.811T>C	ENSP00000328531.4:p.Tyr271His
ENST00000430723.4:c.1483T>C	ENSP00000387657.4:p.Tyr495His
ENST00000461280.1:n.1118T>C
ENST00000473610.5:n.1136T>C
ENST00000532957.5:n.2054T>C
NM_000238.3:c.1831T>C , LRG_288t1:c.1831T>C	NP_000229.1:p.Tyr611His
NM_001204798.1:c.811T>C	NP_001191727.1:p.Tyr271His
NM_172056.2:c.1831T>C , LRG_288t2:c.1831T>C	NP_742053.1:p.Tyr611His
NM_172057.2:c.811T>C , LRG_288t3:c.811T>C	NP_742054.1:p.Tyr271His
XM_011516185.1:c.1531T>C	XP_011514487.1:p.Tyr511His
XM_011516186.1:c.1831T>C	XP_011514488.1:p.Tyr611His
XM_011516185.2:c.1531T>C	XP_011514487.1:p.Tyr511His
XM_011516186.3:c.1831T>C	XP_011514488.1:p.Tyr611His
XM_017012195.1:c.1681T>C	XP_016867684.1:p.Tyr561His
XM_017012196.1:c.1654T>C	XP_016867685.1:p.Tyr552His
NM_000238.4:c.1831T>C MANE Select	NP_000229.1:p.Tyr611His
NM_001204798.2:c.811T>C	NP_001191727.1:p.Tyr271His
NM_172057.3:c.811T>C	NP_742054.1:p.Tyr271His