Canonical Allele Identifier: CA008830

Gene: KCNH2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974938C>T , CM000669.2:g.150974938C>T	GRCh38
NC_000007.13:g.150672026C>T , CM000669.1:g.150672026C>T	GRCh37
NC_000007.12:g.150302959C>T	NCBI36
NG_008916.1:g.7989G>A , LRG_288:g.7989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.80G>A MANE Select	ENSP00000262186.5:p.Arg27His
ENST00000262186.9:c.80G>A	ENSP00000262186.5:p.Arg27His
ENST00000430723.4:c.-98G>A	ENSP00000387657.4:n.-98G>A
ENST00000532957.5:n.303G>A
NM_000238.3:c.80G>A , LRG_288t1:c.80G>A	NP_000229.1:p.Arg27His
NM_172056.2:c.80G>A , LRG_288t2:c.80G>A	NP_742053.1:p.Arg27His
XM_011516186.1:c.80G>A	XP_011514488.1:p.Arg27His
XM_011516186.3:c.80G>A	XP_011514488.1:p.Arg27His
XM_017012196.1:c.-98G>A	XP_016867685.1:n.-98G>A
NM_000238.4:c.80G>A MANE Select	NP_000229.1:p.Arg27His