Canonical Allele Identifier: CA1752431457

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948505T= , CM000669.2:g.150948505T=	GRCh38
NC_000007.13:g.150645593T= , CM000669.1:g.150645593T=	GRCh37
NC_000007.12:g.150276526T=	NCBI36
NG_008916.1:g.34422A= , LRG_288:g.34422A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3464A=
ENST00000262186.10:c.2631A= MANE Select	ENSP00000262186.5:p.Leu877=
ENST00000330883.9:c.1611A=	ENSP00000328531.4:p.Leu537=
ENST00000262186.9:c.2631A=	ENSP00000262186.5:p.Leu877=
ENST00000330883.8:c.1611A=	ENSP00000328531.4:p.Leu537=
NM_000238.3:c.2631A= , LRG_288t1:c.2631A=	NP_000229.1:p.Leu877=
NM_172057.2:c.1611A= , LRG_288t3:c.1611A=	NP_742054.1:p.Leu537=
XM_011516185.1:c.2331A=	XP_011514487.1:p.Leu777=
XM_011516186.1:c.2631A=	XP_011514488.1:p.Leu877=
XM_011516185.2:c.2331A=	XP_011514487.1:p.Leu777=
XM_011516186.3:c.2631A=	XP_011514488.1:p.Leu877=
XM_017012195.1:c.2481A=	XP_016867684.1:p.Leu827=
XM_017012196.1:c.2454A=	XP_016867685.1:p.Leu818=
NM_000238.4:c.2631A= MANE Select	NP_000229.1:p.Leu877=
NM_172057.3:c.1611A=	NP_742054.1:p.Leu537=