Canonical Allele Identifier: CA1752428781

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947386G= , CM000669.2:g.150947386G=	GRCh38
NC_000007.13:g.150644474G= , CM000669.1:g.150644474G=	GRCh37
NC_000007.12:g.150275407G=	NCBI36
NG_008916.1:g.35541C= , LRG_288:g.35541C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3927C=
ENST00000262186.10:c.3094C= MANE Select	ENSP00000262186.5:p.Arg1032=
ENST00000330883.9:c.2074C=	ENSP00000328531.4:p.Arg692=
ENST00000262186.9:c.3094C=	ENSP00000262186.5:p.Arg1032=
ENST00000330883.8:c.2074C=	ENSP00000328531.4:p.Arg692=
NM_000238.3:c.3094C= , LRG_288t1:c.3094C=	NP_000229.1:p.Arg1032=
NM_172057.2:c.2074C= , LRG_288t3:c.2074C=	NP_742054.1:p.Arg692=
XM_011516185.1:c.2794C=	XP_011514487.1:p.Arg932=
XM_011516185.2:c.2794C=	XP_011514487.1:p.Arg932=
XM_017012195.1:c.2944C=	XP_016867684.1:p.Arg982=
XM_017012196.1:c.2917C=	XP_016867685.1:p.Arg973=
NM_000238.4:c.3094C= MANE Select	NP_000229.1:p.Arg1032=
NM_172057.3:c.2074C=	NP_742054.1:p.Arg692=