Canonical Allele Identifier: CA369865827

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671968G>T (hg19) ; chr7:g.150974880G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974880G>T , CM000669.2:g.150974880G>T	GRCh38
NC_000007.13:g.150671968G>T , CM000669.1:g.150671968G>T	GRCh37
NC_000007.12:g.150302901G>T	NCBI36
NG_008916.1:g.8047C>A , LRG_288:g.8047C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.138C>A MANE Select	ENSP00000262186.5:p.Asp46Glu
ENST00000262186.9:c.138C>A	ENSP00000262186.5:p.Asp46Glu
ENST00000430723.4:c.-40C>A	ENSP00000387657.4:n.-40C>A
ENST00000532957.5:n.361C>A
NM_000238.3:c.138C>A , LRG_288t1:c.138C>A	NP_000229.1:p.Asp46Glu
NM_172056.2:c.138C>A , LRG_288t2:c.138C>A	NP_742053.1:p.Asp46Glu
XM_011516186.1:c.138C>A	XP_011514488.1:p.Asp46Glu
XM_011516186.3:c.138C>A	XP_011514488.1:p.Asp46Glu
XM_017012196.1:c.-40C>A	XP_016867685.1:n.-40C>A
NM_000238.4:c.138C>A MANE Select	NP_000229.1:p.Asp46Glu