Canonical Allele Identifier: CA458645191

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116941028
• MyVariant Identifiers: chr7:g.150646076C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948988C>T , CM000669.2:g.150948988C>T	GRCh38
NC_000007.13:g.150646076C>T , CM000669.1:g.150646076C>T	GRCh37
NC_000007.12:g.150277009C>T	NCBI36
NG_008916.1:g.33939G>A , LRG_288:g.33939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3293G>A
ENST00000262186.10:c.2460G>A MANE Select	ENSP00000262186.5:p.Gly820=
ENST00000330883.9:c.1440G>A	ENSP00000328531.4:p.Gly480=
ENST00000262186.9:c.2460G>A	ENSP00000262186.5:p.Gly820=
ENST00000330883.8:c.1440G>A	ENSP00000328531.4:p.Gly480=
NM_000238.3:c.2460G>A , LRG_288t1:c.2460G>A	NP_000229.1:p.Gly820=
NM_172057.2:c.1440G>A , LRG_288t3:c.1440G>A	NP_742054.1:p.Gly480=
XM_011516185.1:c.2160G>A	XP_011514487.1:p.Gly720=
XM_011516186.1:c.2460G>A	XP_011514488.1:p.Gly820=
XM_011516185.2:c.2160G>A	XP_011514487.1:p.Gly720=
XM_011516186.3:c.2460G>A	XP_011514488.1:p.Gly820=
XM_017012195.1:c.2310G>A	XP_016867684.1:p.Gly770=
XM_017012196.1:c.2283G>A	XP_016867685.1:p.Gly761=
NM_000238.4:c.2460G>A MANE Select	NP_000229.1:p.Gly820=
NM_172057.3:c.1440G>A	NP_742054.1:p.Gly480=