Canonical Allele Identifier: CA1752428691

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947380G= , CM000669.2:g.150947380G=	GRCh38
NC_000007.13:g.150644468G= , CM000669.1:g.150644468G=	GRCh37
NC_000007.12:g.150275401G=	NCBI36
NG_008916.1:g.35547C= , LRG_288:g.35547C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3933C=
ENST00000262186.10:c.3100C= MANE Select	ENSP00000262186.5:p.Pro1034=
ENST00000330883.9:c.2080C=	ENSP00000328531.4:p.Pro694=
ENST00000262186.9:c.3100C=	ENSP00000262186.5:p.Pro1034=
ENST00000330883.8:c.2080C=	ENSP00000328531.4:p.Pro694=
NM_000238.3:c.3100C= , LRG_288t1:c.3100C=	NP_000229.1:p.Pro1034=
NM_172057.2:c.2080C= , LRG_288t3:c.2080C=	NP_742054.1:p.Pro694=
XM_011516185.1:c.2800C=	XP_011514487.1:p.Pro934=
XM_011516185.2:c.2800C=	XP_011514487.1:p.Pro934=
XM_017012195.1:c.2950C=	XP_016867684.1:p.Pro984=
XM_017012196.1:c.2923C=	XP_016867685.1:p.Pro975=
NM_000238.4:c.3100C= MANE Select	NP_000229.1:p.Pro1034=
NM_172057.3:c.2080C=	NP_742054.1:p.Pro694=