Canonical Allele Identifier: CA1752410255

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951646T= , CM000669.2:g.150951646T=	GRCh38
NC_000007.13:g.150648734T= , CM000669.1:g.150648734T=	GRCh37
NC_000007.12:g.150279667T=	NCBI36
NG_008916.1:g.31281A= , LRG_288:g.31281A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1045A=
ENST00000684241.1:n.2580A=
ENST00000262186.10:c.1747A= MANE Select	ENSP00000262186.5:p.Ile583=
ENST00000330883.9:c.727A=	ENSP00000328531.4:p.Ile243=
ENST00000262186.9:c.1747A=	ENSP00000262186.5:p.Ile583=
ENST00000330883.8:c.727A=	ENSP00000328531.4:p.Ile243=
ENST00000430723.4:c.1399A=	ENSP00000387657.4:p.Ile467=
ENST00000461280.1:n.1034A=
ENST00000473610.5:n.1052A=
ENST00000532957.5:n.1970A=
NM_000238.3:c.1747A= , LRG_288t1:c.1747A=	NP_000229.1:p.Ile583=
NM_001204798.1:c.727A=	NP_001191727.1:p.Ile243=
NM_172056.2:c.1747A= , LRG_288t2:c.1747A=	NP_742053.1:p.Ile583=
NM_172057.2:c.727A= , LRG_288t3:c.727A=	NP_742054.1:p.Ile243=
XM_011516185.1:c.1447A=	XP_011514487.1:p.Ile483=
XM_011516186.1:c.1747A=	XP_011514488.1:p.Ile583=
XM_011516185.2:c.1447A=	XP_011514487.1:p.Ile483=
XM_011516186.3:c.1747A=	XP_011514488.1:p.Ile583=
XM_017012195.1:c.1597A=	XP_016867684.1:p.Ile533=
XM_017012196.1:c.1570A=	XP_016867685.1:p.Ile524=
NM_000238.4:c.1747A= MANE Select	NP_000229.1:p.Ile583=
NM_001204798.2:c.727A=	NP_001191727.1:p.Ile243=
NM_172057.3:c.727A=	NP_742054.1:p.Ile243=