Canonical Allele Identifier: CA369860057

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952693G>T , CM000669.2:g.150952693G>T	GRCh38
NC_000007.13:g.150649781G>T , CM000669.1:g.150649781G>T	GRCh37
NC_000007.12:g.150280714G>T	NCBI36
NG_008916.1:g.30234C>A , LRG_288:g.30234C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1289C>A MANE Select	NP_000229.1:p.Ala430Asp
ENST00000262186.10:c.1289C>A MANE Select	ENSP00000262186.5:p.Ala430Asp
NM_000238.3:c.1289C>A , LRG_288t1:c.1289C>A	NP_000229.1:p.Ala430Asp
NM_001204798.1:c.269C>A	NP_001191727.1:p.Ala90Asp
NM_001204798.2:c.269C>A	NP_001191727.1:p.Ala90Asp
NM_172056.2:c.1289C>A , LRG_288t2:c.1289C>A	NP_742053.1:p.Ala430Asp
NM_172057.2:c.269C>A , LRG_288t3:c.269C>A	NP_742054.1:p.Ala90Asp
NM_172057.3:c.269C>A	NP_742054.1:p.Ala90Asp
ENST00000262186.9:c.1289C>A	ENSP00000262186.5:p.Ala430Asp
ENST00000330883.8:c.269C>A	ENSP00000328531.4:p.Ala90Asp
ENST00000330883.9:c.269C>A	ENSP00000328531.4:p.Ala90Asp
ENST00000430723.4:c.941C>A	ENSP00000387657.4:p.Ala314Asp
ENST00000461280.1:n.576C>A
ENST00000461280.2:n.587C>A
ENST00000473610.5:n.594C>A
ENST00000532957.5:n.1512C>A
ENST00000684116.1:n.182C>A
ENST00000684241.1:n.2122C>A
XM_011516185.1:c.989C>A	XP_011514487.1:p.Ala330Asp
XM_011516185.2:c.989C>A	XP_011514487.1:p.Ala330Asp
XM_011516186.1:c.1289C>A	XP_011514488.1:p.Ala430Asp
XM_011516186.3:c.1289C>A	XP_011514488.1:p.Ala430Asp
XM_017012195.1:c.1139C>A	XP_016867684.1:p.Ala380Asp
XM_017012196.1:c.1112C>A	XP_016867685.1:p.Ala371Asp