Canonical Allele Identifier: CA1752429416

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947477C= , CM000669.2:g.150947477C=	GRCh38
NC_000007.13:g.150644565C= , CM000669.1:g.150644565C=	GRCh37
NC_000007.12:g.150275498C=	NCBI36
NG_008916.1:g.35450G= , LRG_288:g.35450G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3003G= MANE Select	NP_000229.1:p.Trp1001=
ENST00000262186.10:c.3003G= MANE Select	ENSP00000262186.5:p.Trp1001=
NM_000238.3:c.3003G= , LRG_288t1:c.3003G=	NP_000229.1:p.Trp1001=
NM_172057.2:c.1983G= , LRG_288t3:c.1983G=	NP_742054.1:p.Trp661=
NM_172057.3:c.1983G=	NP_742054.1:p.Trp661=
ENST00000262186.9:c.3003G=	ENSP00000262186.5:p.Trp1001=
ENST00000330883.8:c.1983G=	ENSP00000328531.4:p.Trp661=
ENST00000330883.9:c.1983G=	ENSP00000328531.4:p.Trp661=
ENST00000684241.1:n.3836G=
XM_011516185.1:c.2703G=	XP_011514487.1:p.Trp901=
XM_011516185.2:c.2703G=	XP_011514487.1:p.Trp901=
XM_011516186.1:c.*83G=	XP_011514488.1:n.*83G=
XM_011516186.3:c.*83G=	XP_011514488.1:n.*83G=
XM_017012195.1:c.2853G=	XP_016867684.1:p.Trp951=
XM_017012196.1:c.2826G=	XP_016867685.1:p.Trp942=