Canonical Allele Identifier: CA369861449

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654398A>T (hg19) ; chr7:g.150957310A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957310A>T , CM000669.2:g.150957310A>T	GRCh38
NC_000007.13:g.150654398A>T , CM000669.1:g.150654398A>T	GRCh37
NC_000007.12:g.150285331A>T	NCBI36
NG_008916.1:g.25617T>A , LRG_288:g.25617T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1942T>A
ENST00000262186.10:c.1109T>A MANE Select	ENSP00000262186.5:p.Val370Asp
ENST00000262186.9:c.1109T>A	ENSP00000262186.5:p.Val370Asp
ENST00000430723.4:c.761T>A	ENSP00000387657.4:p.Val254Asp
ENST00000532957.5:n.1332T>A
NM_000238.3:c.1109T>A , LRG_288t1:c.1109T>A	NP_000229.1:p.Val370Asp
NM_172056.2:c.1109T>A , LRG_288t2:c.1109T>A	NP_742053.1:p.Val370Asp
XM_011516185.1:c.809T>A	XP_011514487.1:p.Val270Asp
XM_011516186.1:c.1109T>A	XP_011514488.1:p.Val370Asp
XM_011516185.2:c.809T>A	XP_011514487.1:p.Val270Asp
XM_011516186.3:c.1109T>A	XP_011514488.1:p.Val370Asp
XM_017012195.1:c.959T>A	XP_016867684.1:p.Val320Asp
XM_017012196.1:c.932T>A	XP_016867685.1:p.Val311Asp
NM_000238.4:c.1109T>A MANE Select	NP_000229.1:p.Val370Asp