Canonical Allele Identifier: CA369861628

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957395-C-A
• MyVariant Identifiers: chr7:g.150654483C>A (hg19) ; chr7:g.150957395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957395C>A , CM000669.2:g.150957395C>A	GRCh38
NC_000007.13:g.150654483C>A , CM000669.1:g.150654483C>A	GRCh37
NC_000007.12:g.150285416C>A	NCBI36
NG_008916.1:g.25532G>T , LRG_288:g.25532G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1857G>T
ENST00000262186.10:c.1024G>T MANE Select	ENSP00000262186.5:p.Asp342Tyr
ENST00000262186.9:c.1024G>T	ENSP00000262186.5:p.Asp342Tyr
ENST00000430723.4:c.676G>T	ENSP00000387657.4:p.Asp226Tyr
ENST00000532957.5:n.1247G>T
NM_000238.3:c.1024G>T , LRG_288t1:c.1024G>T	NP_000229.1:p.Asp342Tyr
NM_172056.2:c.1024G>T , LRG_288t2:c.1024G>T	NP_742053.1:p.Asp342Tyr
XM_011516185.1:c.724G>T	XP_011514487.1:p.Asp242Tyr
XM_011516186.1:c.1024G>T	XP_011514488.1:p.Asp342Tyr
XM_011516185.2:c.724G>T	XP_011514487.1:p.Asp242Tyr
XM_011516186.3:c.1024G>T	XP_011514488.1:p.Asp342Tyr
XM_017012195.1:c.874G>T	XP_016867684.1:p.Asp292Tyr
XM_017012196.1:c.847G>T	XP_016867685.1:p.Asp283Tyr
NM_000238.4:c.1024G>T MANE Select	NP_000229.1:p.Asp342Tyr