Canonical Allele Identifier: CA369861623

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654480G>C (hg19) ; chr7:g.150957392G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957392G>C , CM000669.2:g.150957392G>C	GRCh38
NC_000007.13:g.150654480G>C , CM000669.1:g.150654480G>C	GRCh37
NC_000007.12:g.150285413G>C	NCBI36
NG_008916.1:g.25535C>G , LRG_288:g.25535C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1860C>G
ENST00000262186.10:c.1027C>G MANE Select	ENSP00000262186.5:p.Leu343Val
ENST00000262186.9:c.1027C>G	ENSP00000262186.5:p.Leu343Val
ENST00000430723.4:c.679C>G	ENSP00000387657.4:p.Leu227Val
ENST00000532957.5:n.1250C>G
NM_000238.3:c.1027C>G , LRG_288t1:c.1027C>G	NP_000229.1:p.Leu343Val
NM_172056.2:c.1027C>G , LRG_288t2:c.1027C>G	NP_742053.1:p.Leu343Val
XM_011516185.1:c.727C>G	XP_011514487.1:p.Leu243Val
XM_011516186.1:c.1027C>G	XP_011514488.1:p.Leu343Val
XM_011516185.2:c.727C>G	XP_011514487.1:p.Leu243Val
XM_011516186.3:c.1027C>G	XP_011514488.1:p.Leu343Val
XM_017012195.1:c.877C>G	XP_016867684.1:p.Leu293Val
XM_017012196.1:c.850C>G	XP_016867685.1:p.Leu284Val
NM_000238.4:c.1027C>G MANE Select	NP_000229.1:p.Leu343Val