Canonical Allele Identifier: CA1752432035

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948994C= , CM000669.2:g.150948994C=	GRCh38
NC_000007.13:g.150646082C= , CM000669.1:g.150646082C=	GRCh37
NC_000007.12:g.150277015C=	NCBI36
NG_008916.1:g.33933G= , LRG_288:g.33933G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3287G=
ENST00000262186.10:c.2454G= MANE Select	ENSP00000262186.5:p.Ser818=
ENST00000330883.9:c.1434G=	ENSP00000328531.4:p.Ser478=
ENST00000262186.9:c.2454G=	ENSP00000262186.5:p.Ser818=
ENST00000330883.8:c.1434G=	ENSP00000328531.4:p.Ser478=
NM_000238.3:c.2454G= , LRG_288t1:c.2454G=	NP_000229.1:p.Ser818=
NM_172057.2:c.1434G= , LRG_288t3:c.1434G=	NP_742054.1:p.Ser478=
XM_011516185.1:c.2154G=	XP_011514487.1:p.Ser718=
XM_011516186.1:c.2454G=	XP_011514488.1:p.Ser818=
XM_011516185.2:c.2154G=	XP_011514487.1:p.Ser718=
XM_011516186.3:c.2454G=	XP_011514488.1:p.Ser818=
XM_017012195.1:c.2304G=	XP_016867684.1:p.Ser768=
XM_017012196.1:c.2277G=	XP_016867685.1:p.Ser759=
NM_000238.4:c.2454G= MANE Select	NP_000229.1:p.Ser818=
NM_172057.3:c.1434G=	NP_742054.1:p.Ser478=