Canonical Allele Identifier: CA1752428853

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947397G= , CM000669.2:g.150947397G=	GRCh38
NC_000007.13:g.150644485G= , CM000669.1:g.150644485G=	GRCh37
NC_000007.12:g.150275418G=	NCBI36
NG_008916.1:g.35530C= , LRG_288:g.35530C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3916C=
ENST00000262186.10:c.3083C= MANE Select	ENSP00000262186.5:p.Ser1028=
ENST00000330883.9:c.2063C=	ENSP00000328531.4:p.Ser688=
ENST00000262186.9:c.3083C=	ENSP00000262186.5:p.Ser1028=
ENST00000330883.8:c.2063C=	ENSP00000328531.4:p.Ser688=
NM_000238.3:c.3083C= , LRG_288t1:c.3083C=	NP_000229.1:p.Ser1028=
NM_172057.2:c.2063C= , LRG_288t3:c.2063C=	NP_742054.1:p.Ser688=
XM_011516185.1:c.2783C=	XP_011514487.1:p.Ser928=
XM_011516185.2:c.2783C=	XP_011514487.1:p.Ser928=
XM_017012195.1:c.2933C=	XP_016867684.1:p.Ser978=
XM_017012196.1:c.2906C=	XP_016867685.1:p.Ser969=
NM_000238.4:c.3083C= MANE Select	NP_000229.1:p.Ser1028=
NM_172057.3:c.2063C=	NP_742054.1:p.Ser688=