Canonical Allele Identifier: CA369863880

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656801C>A (hg19) ; chr7:g.150959713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959713C>A , CM000669.2:g.150959713C>A	GRCh38
NC_000007.13:g.150656801C>A , CM000669.1:g.150656801C>A	GRCh37
NC_000007.12:g.150287734C>A	NCBI36
NG_008916.1:g.23214G>T , LRG_288:g.23214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1164G>T
ENST00000262186.10:c.331G>T MANE Select	ENSP00000262186.5:p.Asp111Tyr
ENST00000262186.9:c.331G>T	ENSP00000262186.5:p.Asp111Tyr
ENST00000430723.4:c.154G>T	ENSP00000387657.4:p.Asp52Tyr
ENST00000532957.5:n.554G>T
NM_000238.3:c.331G>T , LRG_288t1:c.331G>T	NP_000229.1:p.Asp111Tyr
NM_172056.2:c.331G>T , LRG_288t2:c.331G>T	NP_742053.1:p.Asp111Tyr
XM_011516185.1:c.31G>T	XP_011514487.1:p.Asp11Tyr
XM_011516186.1:c.331G>T	XP_011514488.1:p.Asp111Tyr
XM_011516185.2:c.31G>T	XP_011514487.1:p.Asp11Tyr
XM_011516186.3:c.331G>T	XP_011514488.1:p.Asp111Tyr
XM_017012195.1:c.181G>T	XP_016867684.1:p.Asp61Tyr
XM_017012196.1:c.154G>T	XP_016867685.1:p.Asp52Tyr
NM_000238.4:c.331G>T MANE Select	NP_000229.1:p.Asp111Tyr