Canonical Allele Identifier: CA1752462068

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974769C= , CM000669.2:g.150974769C=	GRCh38
NC_000007.13:g.150671857C= , CM000669.1:g.150671857C=	GRCh37
NC_000007.12:g.150302790C=	NCBI36
NG_008916.1:g.8158G= , LRG_288:g.8158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.249G= MANE Select	ENSP00000262186.5:p.Ala83=
ENST00000262186.9:c.249G=	ENSP00000262186.5:p.Ala83=
ENST00000430723.4:c.72G=	ENSP00000387657.4:p.Ala24=
ENST00000532957.5:n.472G=
NM_000238.3:c.249G= , LRG_288t1:c.249G=	NP_000229.1:p.Ala83=
NM_172056.2:c.249G= , LRG_288t2:c.249G=	NP_742053.1:p.Ala83=
XM_011516186.1:c.249G=	XP_011514488.1:p.Ala83=
XM_011516186.3:c.249G=	XP_011514488.1:p.Ala83=
XM_017012196.1:c.72G=	XP_016867685.1:p.Ala24=
NM_000238.4:c.249G= MANE Select	NP_000229.1:p.Ala83=