Canonical Allele Identifier: CA1752416742

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957384G= , CM000669.2:g.150957384G=	GRCh38
NC_000007.13:g.150654472G= , CM000669.1:g.150654472G=	GRCh37
NC_000007.12:g.150285405G=	NCBI36
NG_008916.1:g.25543C= , LRG_288:g.25543C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1868C=
ENST00000262186.10:c.1035C= MANE Select	ENSP00000262186.5:p.Gly345=
ENST00000262186.9:c.1035C=	ENSP00000262186.5:p.Gly345=
ENST00000430723.4:c.687C=	ENSP00000387657.4:p.Gly229=
ENST00000532957.5:n.1258C=
NM_000238.3:c.1035C= , LRG_288t1:c.1035C=	NP_000229.1:p.Gly345=
NM_172056.2:c.1035C= , LRG_288t2:c.1035C=	NP_742053.1:p.Gly345=
XM_011516185.1:c.735C=	XP_011514487.1:p.Gly245=
XM_011516186.1:c.1035C=	XP_011514488.1:p.Gly345=
XM_011516185.2:c.735C=	XP_011514487.1:p.Gly245=
XM_011516186.3:c.1035C=	XP_011514488.1:p.Gly345=
XM_017012195.1:c.885C=	XP_016867684.1:p.Gly295=
XM_017012196.1:c.858C=	XP_016867685.1:p.Gly286=
NM_000238.4:c.1035C= MANE Select	NP_000229.1:p.Gly345=