Canonical Allele Identifier: CA1752428537

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947368C= , CM000669.2:g.150947368C=	GRCh38
NC_000007.13:g.150644456C= , CM000669.1:g.150644456C=	GRCh37
NC_000007.12:g.150275389C=	NCBI36
NG_008916.1:g.35559G= , LRG_288:g.35559G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3945G=
ENST00000262186.10:c.3112G= MANE Select	ENSP00000262186.5:p.Val1038=
ENST00000330883.9:c.2092G=	ENSP00000328531.4:p.Val698=
ENST00000262186.9:c.3112G=	ENSP00000262186.5:p.Val1038=
ENST00000330883.8:c.2092G=	ENSP00000328531.4:p.Val698=
NM_000238.3:c.3112G= , LRG_288t1:c.3112G=	NP_000229.1:p.Val1038=
NM_172057.2:c.2092G= , LRG_288t3:c.2092G=	NP_742054.1:p.Val698=
XM_011516185.1:c.2812G=	XP_011514487.1:p.Val938=
XM_011516185.2:c.2812G=	XP_011514487.1:p.Val938=
XM_017012195.1:c.2962G=	XP_016867684.1:p.Val988=
XM_017012196.1:c.2935G=	XP_016867685.1:p.Val979=
NM_000238.4:c.3112G= MANE Select	NP_000229.1:p.Val1038=
NM_172057.3:c.2092G=	NP_742054.1:p.Val698=