Canonical Allele Identifier: CA005271

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67251
• ClinVar RCV Id: RCV000057963 ; RCV000181812 ; RCV003531953
• dbSNP Id: rs199473423
• MyVariant Identifiers: chr7:g.150648766C>A (hg19) ; chr7:g.150951678C>A (hg38)
• PubMed: PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951678C>A , CM000669.2:g.150951678C>A	GRCh38
NC_000007.13:g.150648766C>A , CM000669.1:g.150648766C>A	GRCh37
NC_000007.12:g.150279699C>A	NCBI36
NG_008916.1:g.31249G>T , LRG_288:g.31249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1013G>T
ENST00000684241.1:n.2548G>T
ENST00000262186.10:c.1715G>T MANE Select	ENSP00000262186.5:p.Gly572Val
ENST00000330883.9:c.695G>T	ENSP00000328531.4:p.Gly232Val
ENST00000262186.9:c.1715G>T	ENSP00000262186.5:p.Gly572Val
ENST00000330883.8:c.695G>T	ENSP00000328531.4:p.Gly232Val
ENST00000430723.4:c.1367G>T	ENSP00000387657.4:p.Gly456Val
ENST00000461280.1:n.1002G>T
ENST00000473610.5:n.1020G>T
ENST00000532957.5:n.1938G>T
NM_000238.3:c.1715G>T , LRG_288t1:c.1715G>T	NP_000229.1:p.Gly572Val
NM_001204798.1:c.695G>T	NP_001191727.1:p.Gly232Val
NM_172056.2:c.1715G>T , LRG_288t2:c.1715G>T	NP_742053.1:p.Gly572Val
NM_172057.2:c.695G>T , LRG_288t3:c.695G>T	NP_742054.1:p.Gly232Val
XM_011516185.1:c.1415G>T	XP_011514487.1:p.Gly472Val
XM_011516186.1:c.1715G>T	XP_011514488.1:p.Gly572Val
XM_011516185.2:c.1415G>T	XP_011514487.1:p.Gly472Val
XM_011516186.3:c.1715G>T	XP_011514488.1:p.Gly572Val
XM_017012195.1:c.1565G>T	XP_016867684.1:p.Gly522Val
XM_017012196.1:c.1538G>T	XP_016867685.1:p.Gly513Val
NM_000238.4:c.1715G>T MANE Select	NP_000229.1:p.Gly572Val
NM_001204798.2:c.695G>T	NP_001191727.1:p.Gly232Val
NM_172057.3:c.695G>T	NP_742054.1:p.Gly232Val