Canonical Allele Identifier: CA1752416626

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957318G= , CM000669.2:g.150957318G=	GRCh38
NC_000007.13:g.150654406G= , CM000669.1:g.150654406G=	GRCh37
NC_000007.12:g.150285339G=	NCBI36
NG_008916.1:g.25609C= , LRG_288:g.25609C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1934C=
ENST00000262186.10:c.1101C= MANE Select	ENSP00000262186.5:p.Thr367=
ENST00000262186.9:c.1101C=	ENSP00000262186.5:p.Thr367=
ENST00000430723.4:c.753C=	ENSP00000387657.4:p.Thr251=
ENST00000532957.5:n.1324C=
NM_000238.3:c.1101C= , LRG_288t1:c.1101C=	NP_000229.1:p.Thr367=
NM_172056.2:c.1101C= , LRG_288t2:c.1101C=	NP_742053.1:p.Thr367=
XM_011516185.1:c.801C=	XP_011514487.1:p.Thr267=
XM_011516186.1:c.1101C=	XP_011514488.1:p.Thr367=
XM_011516185.2:c.801C=	XP_011514487.1:p.Thr267=
XM_011516186.3:c.1101C=	XP_011514488.1:p.Thr367=
XM_017012195.1:c.951C=	XP_016867684.1:p.Thr317=
XM_017012196.1:c.924C=	XP_016867685.1:p.Thr308=
NM_000238.4:c.1101C= MANE Select	NP_000229.1:p.Thr367=