Canonical Allele Identifier: CA005249

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 14429
• ClinVar RCV Id: RCV000015510 ; RCV000057960
• dbSNP Id: rs9333649
• MyVariant Identifiers: chr7:g.150648767C>G (hg19) ; chr7:g.150951679C>G (hg38)
• PubMed: PMID:10220146 ; PMID:10735633 ; PMID:11468227 ; PMID:11668638 ; PMID:20931094 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951679C>G , CM000669.2:g.150951679C>G	GRCh38
NC_000007.13:g.150648767C>G , CM000669.1:g.150648767C>G	GRCh37
NC_000007.12:g.150279700C>G	NCBI36
NG_008916.1:g.31248G>C , LRG_288:g.31248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1012G>C
ENST00000684241.1:n.2547G>C
ENST00000262186.10:c.1714G>C MANE Select	ENSP00000262186.5:p.Gly572Arg
ENST00000330883.9:c.694G>C	ENSP00000328531.4:p.Gly232Arg
ENST00000262186.9:c.1714G>C	ENSP00000262186.5:p.Gly572Arg
ENST00000330883.8:c.694G>C	ENSP00000328531.4:p.Gly232Arg
ENST00000430723.4:c.1366G>C	ENSP00000387657.4:p.Gly456Arg
ENST00000461280.1:n.1001G>C
ENST00000473610.5:n.1019G>C
ENST00000532957.5:n.1937G>C
NM_000238.3:c.1714G>C , LRG_288t1:c.1714G>C	NP_000229.1:p.Gly572Arg
NM_001204798.1:c.694G>C	NP_001191727.1:p.Gly232Arg
NM_172056.2:c.1714G>C , LRG_288t2:c.1714G>C	NP_742053.1:p.Gly572Arg
NM_172057.2:c.694G>C , LRG_288t3:c.694G>C	NP_742054.1:p.Gly232Arg
XM_011516185.1:c.1414G>C	XP_011514487.1:p.Gly472Arg
XM_011516186.1:c.1714G>C	XP_011514488.1:p.Gly572Arg
XM_011516185.2:c.1414G>C	XP_011514487.1:p.Gly472Arg
XM_011516186.3:c.1714G>C	XP_011514488.1:p.Gly572Arg
XM_017012195.1:c.1564G>C	XP_016867684.1:p.Gly522Arg
XM_017012196.1:c.1537G>C	XP_016867685.1:p.Gly513Arg
NM_000238.4:c.1714G>C MANE Select	NP_000229.1:p.Gly572Arg
NM_001204798.2:c.694G>C	NP_001191727.1:p.Gly232Arg
NM_172057.3:c.694G>C	NP_742054.1:p.Gly232Arg