Canonical Allele Identifier: CA458645001

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645581G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948493G>A , CM000669.2:g.150948493G>A	GRCh38
NC_000007.13:g.150645581G>A , CM000669.1:g.150645581G>A	GRCh37
NC_000007.12:g.150276514G>A	NCBI36
NG_008916.1:g.34434C>T , LRG_288:g.34434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3476C>T
ENST00000262186.10:c.2643C>T MANE Select	ENSP00000262186.5:p.Phe881=
ENST00000330883.9:c.1623C>T	ENSP00000328531.4:p.Phe541=
ENST00000262186.9:c.2643C>T	ENSP00000262186.5:p.Phe881=
ENST00000330883.8:c.1623C>T	ENSP00000328531.4:p.Phe541=
NM_000238.3:c.2643C>T , LRG_288t1:c.2643C>T	NP_000229.1:p.Phe881=
NM_172057.2:c.1623C>T , LRG_288t3:c.1623C>T	NP_742054.1:p.Phe541=
XM_011516185.1:c.2343C>T	XP_011514487.1:p.Phe781=
XM_011516186.1:c.2643C>T	XP_011514488.1:p.Phe881=
XM_011516185.2:c.2343C>T	XP_011514487.1:p.Phe781=
XM_011516186.3:c.2643C>T	XP_011514488.1:p.Phe881=
XM_017012195.1:c.2493C>T	XP_016867684.1:p.Phe831=
XM_017012196.1:c.2466C>T	XP_016867685.1:p.Phe822=
NM_000238.4:c.2643C>T MANE Select	NP_000229.1:p.Phe881=
NM_172057.3:c.1623C>T	NP_742054.1:p.Phe541=