Canonical Allele Identifier: CA1752418709

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958439G= , CM000669.2:g.150958439G=	GRCh38
NC_000007.13:g.150655527G= , CM000669.1:g.150655527G=	GRCh37
NC_000007.12:g.150286460G=	NCBI36
NG_008916.1:g.24488C= , LRG_288:g.24488C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1369C=
ENST00000262186.10:c.536C= MANE Select	ENSP00000262186.5:p.Ser179=
ENST00000262186.9:c.536C=	ENSP00000262186.5:p.Ser179=
ENST00000430723.4:c.235-47C=	ENSP00000387657.4:n.235-47C=
ENST00000532957.5:n.759C=
NM_000238.3:c.536C= , LRG_288t1:c.536C=	NP_000229.1:p.Ser179=
NM_172056.2:c.536C= , LRG_288t2:c.536C=	NP_742053.1:p.Ser179=
XM_011516185.1:c.236C=	XP_011514487.1:p.Ser79=
XM_011516186.1:c.536C=	XP_011514488.1:p.Ser179=
XM_011516185.2:c.236C=	XP_011514487.1:p.Ser79=
XM_011516186.3:c.536C=	XP_011514488.1:p.Ser179=
XM_017012195.1:c.386C=	XP_016867684.1:p.Ser129=
XM_017012196.1:c.359C=	XP_016867685.1:p.Ser120=
NM_000238.4:c.536C= MANE Select	NP_000229.1:p.Ser179=