Canonical Allele Identifier: CA369865343

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671821T>A (hg19) ; chr7:g.150974733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974733T>A , CM000669.2:g.150974733T>A	GRCh38
NC_000007.13:g.150671821T>A , CM000669.1:g.150671821T>A	GRCh37
NC_000007.12:g.150302754T>A	NCBI36
NG_008916.1:g.8194A>T , LRG_288:g.8194A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.285A>T MANE Select	ENSP00000262186.5:p.Glu95Asp
ENST00000262186.9:c.285A>T	ENSP00000262186.5:p.Glu95Asp
ENST00000430723.4:c.108A>T	ENSP00000387657.4:p.Glu36Asp
ENST00000532957.5:n.508A>T
NM_000238.3:c.285A>T , LRG_288t1:c.285A>T	NP_000229.1:p.Glu95Asp
NM_172056.2:c.285A>T , LRG_288t2:c.285A>T	NP_742053.1:p.Glu95Asp
XM_011516186.1:c.285A>T	XP_011514488.1:p.Glu95Asp
XM_011516186.3:c.285A>T	XP_011514488.1:p.Glu95Asp
XM_017012196.1:c.108A>T	XP_016867685.1:p.Glu36Asp
NM_000238.4:c.285A>T MANE Select	NP_000229.1:p.Glu95Asp