Canonical Allele Identifier: CA1752418185

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958246G= , CM000669.2:g.150958246G=	GRCh38
NC_000007.13:g.150655334G= , CM000669.1:g.150655334G=	GRCh37
NC_000007.12:g.150286267G=	NCBI36
NG_008916.1:g.24681C= , LRG_288:g.24681C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1562C=
ENST00000262186.10:c.729C= MANE Select	ENSP00000262186.5:p.Ser243=
ENST00000262186.9:c.729C=	ENSP00000262186.5:p.Ser243=
ENST00000430723.4:c.381C=	ENSP00000387657.4:p.Ser127=
ENST00000532957.5:n.952C=
NM_000238.3:c.729C= , LRG_288t1:c.729C=	NP_000229.1:p.Ser243=
NM_172056.2:c.729C= , LRG_288t2:c.729C=	NP_742053.1:p.Ser243=
XM_011516185.1:c.429C=	XP_011514487.1:p.Ser143=
XM_011516186.1:c.729C=	XP_011514488.1:p.Ser243=
XM_011516185.2:c.429C=	XP_011514487.1:p.Ser143=
XM_011516186.3:c.729C=	XP_011514488.1:p.Ser243=
XM_017012195.1:c.579C=	XP_016867684.1:p.Ser193=
XM_017012196.1:c.552C=	XP_016867685.1:p.Ser184=
NM_000238.4:c.729C= MANE Select	NP_000229.1:p.Ser243=