Canonical Allele Identifier: CA369856279

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647366G>T (hg19) ; chr7:g.150950278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950278G>T , CM000669.2:g.150950278G>T	GRCh38
NC_000007.13:g.150647366G>T , CM000669.1:g.150647366G>T	GRCh37
NC_000007.12:g.150278299G>T	NCBI36
NG_008916.1:g.32649C>A , LRG_288:g.32649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1586C>A
ENST00000684241.1:n.3121C>A
ENST00000262186.10:c.2288C>A MANE Select	ENSP00000262186.5:p.Ala763Glu
ENST00000330883.9:c.1268C>A	ENSP00000328531.4:p.Ala423Glu
ENST00000262186.9:c.2288C>A	ENSP00000262186.5:p.Ala763Glu
ENST00000330883.8:c.1268C>A	ENSP00000328531.4:p.Ala423Glu
ENST00000430723.4:c.1940C>A	ENSP00000387657.4:p.Ala647Glu
ENST00000461280.1:n.1575C>A
ENST00000473610.5:n.1920C>A
ENST00000532957.5:n.2511C>A
NM_000238.3:c.2288C>A , LRG_288t1:c.2288C>A	NP_000229.1:p.Ala763Glu
NM_001204798.1:c.1268C>A	NP_001191727.1:p.Ala423Glu
NM_172056.2:c.2288C>A , LRG_288t2:c.2288C>A	NP_742053.1:p.Ala763Glu
NM_172057.2:c.1268C>A , LRG_288t3:c.1268C>A	NP_742054.1:p.Ala423Glu
XM_011516185.1:c.1988C>A	XP_011514487.1:p.Ala663Glu
XM_011516186.1:c.2288C>A	XP_011514488.1:p.Ala763Glu
XM_011516185.2:c.1988C>A	XP_011514487.1:p.Ala663Glu
XM_011516186.3:c.2288C>A	XP_011514488.1:p.Ala763Glu
XM_017012195.1:c.2138C>A	XP_016867684.1:p.Ala713Glu
XM_017012196.1:c.2111C>A	XP_016867685.1:p.Ala704Glu
NM_000238.4:c.2288C>A MANE Select	NP_000229.1:p.Ala763Glu
NM_001204798.2:c.1268C>A	NP_001191727.1:p.Ala423Glu
NM_172057.3:c.1268C>A	NP_742054.1:p.Ala423Glu