Canonical Allele Identifier: CA004343

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200331
• ClinVar RCV Id: RCV000181784
• dbSNP Id: rs199472894
• MyVariant Identifiers: chr7:g.150649808G>T (hg19) ; chr7:g.150952720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952720G>T , CM000669.2:g.150952720G>T	GRCh38
NC_000007.13:g.150649808G>T , CM000669.1:g.150649808G>T	GRCh37
NC_000007.12:g.150280741G>T	NCBI36
NG_008916.1:g.30207C>A , LRG_288:g.30207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.560C>A
ENST00000684116.1:n.155C>A
ENST00000684241.1:n.2095C>A
ENST00000262186.10:c.1262C>A MANE Select	ENSP00000262186.5:p.Thr421Lys
ENST00000330883.9:c.242C>A	ENSP00000328531.4:p.Thr81Lys
ENST00000262186.9:c.1262C>A	ENSP00000262186.5:p.Thr421Lys
ENST00000330883.8:c.242C>A	ENSP00000328531.4:p.Thr81Lys
ENST00000430723.4:c.914C>A	ENSP00000387657.4:p.Thr305Lys
ENST00000461280.1:n.549C>A
ENST00000473610.5:n.567C>A
ENST00000532957.5:n.1485C>A
NM_000238.3:c.1262C>A , LRG_288t1:c.1262C>A	NP_000229.1:p.Thr421Lys
NM_001204798.1:c.242C>A	NP_001191727.1:p.Thr81Lys
NM_172056.2:c.1262C>A , LRG_288t2:c.1262C>A	NP_742053.1:p.Thr421Lys
NM_172057.2:c.242C>A , LRG_288t3:c.242C>A	NP_742054.1:p.Thr81Lys
XM_011516185.1:c.962C>A	XP_011514487.1:p.Thr321Lys
XM_011516186.1:c.1262C>A	XP_011514488.1:p.Thr421Lys
XM_011516185.2:c.962C>A	XP_011514487.1:p.Thr321Lys
XM_011516186.3:c.1262C>A	XP_011514488.1:p.Thr421Lys
XM_017012195.1:c.1112C>A	XP_016867684.1:p.Thr371Lys
XM_017012196.1:c.1085C>A	XP_016867685.1:p.Thr362Lys
NM_000238.4:c.1262C>A MANE Select	NP_000229.1:p.Thr421Lys
NM_001204798.2:c.242C>A	NP_001191727.1:p.Thr81Lys
NM_172057.3:c.242C>A	NP_742054.1:p.Thr81Lys