Canonical Allele Identifier: CA458644907

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644529A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947441A>T , CM000669.2:g.150947441A>T	GRCh38
NC_000007.13:g.150644529A>T , CM000669.1:g.150644529A>T	GRCh37
NC_000007.12:g.150275462A>T	NCBI36
NG_008916.1:g.35486T>A , LRG_288:g.35486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3872T>A
ENST00000262186.10:c.3039T>A MANE Select	ENSP00000262186.5:p.Pro1013=
ENST00000330883.9:c.2019T>A	ENSP00000328531.4:p.Pro673=
ENST00000262186.9:c.3039T>A	ENSP00000262186.5:p.Pro1013=
ENST00000330883.8:c.2019T>A	ENSP00000328531.4:p.Pro673=
NM_000238.3:c.3039T>A , LRG_288t1:c.3039T>A	NP_000229.1:p.Pro1013=
NM_172057.2:c.2019T>A , LRG_288t3:c.2019T>A	NP_742054.1:p.Pro673=
XM_011516185.1:c.2739T>A	XP_011514487.1:p.Pro913=
XM_011516186.1:c.*119T>A	XP_011514488.1:n.*119T>A
XM_011516185.2:c.2739T>A	XP_011514487.1:p.Pro913=
XM_011516186.3:c.*119T>A	XP_011514488.1:n.*119T>A
XM_017012195.1:c.2889T>A	XP_016867684.1:p.Pro963=
XM_017012196.1:c.2862T>A	XP_016867685.1:p.Pro954=
NM_000238.4:c.3039T>A MANE Select	NP_000229.1:p.Pro1013=
NM_172057.3:c.2019T>A	NP_742054.1:p.Pro673=