Canonical Allele Identifier: CA1752430529

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947870G= , CM000669.2:g.150947870G=	GRCh38
NC_000007.13:g.150644958G= , CM000669.1:g.150644958G=	GRCh37
NC_000007.12:g.150275891G=	NCBI36
NG_008916.1:g.35057C= , LRG_288:g.35057C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3534C=
ENST00000262186.10:c.2701C= MANE Select	ENSP00000262186.5:p.Gln901=
ENST00000330883.9:c.1681C=	ENSP00000328531.4:p.Gln561=
ENST00000262186.9:c.2701C=	ENSP00000262186.5:p.Gln901=
ENST00000330883.8:c.1681C=	ENSP00000328531.4:p.Gln561=
NM_000238.3:c.2701C= , LRG_288t1:c.2701C=	NP_000229.1:p.Gln901=
NM_172057.2:c.1681C= , LRG_288t3:c.1681C=	NP_742054.1:p.Gln561=
XM_011516185.1:c.2401C=	XP_011514487.1:p.Gln801=
XM_011516186.1:c.2693-179C=	XP_011514488.1:n.2693-179C=
XM_011516185.2:c.2401C=	XP_011514487.1:p.Gln801=
XM_011516186.3:c.2693-179C=	XP_011514488.1:n.2693-179C=
XM_017012195.1:c.2551C=	XP_016867684.1:p.Gln851=
XM_017012196.1:c.2524C=	XP_016867685.1:p.Gln842=
NM_000238.4:c.2701C= MANE Select	NP_000229.1:p.Gln901=
NM_172057.3:c.1681C=	NP_742054.1:p.Gln561=