Canonical Allele Identifier: CA369861620

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654479A>G (hg19) ; chr7:g.150957391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957391A>G , CM000669.2:g.150957391A>G	GRCh38
NC_000007.13:g.150654479A>G , CM000669.1:g.150654479A>G	GRCh37
NC_000007.12:g.150285412A>G	NCBI36
NG_008916.1:g.25536T>C , LRG_288:g.25536T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1861T>C
ENST00000262186.10:c.1028T>C MANE Select	ENSP00000262186.5:p.Leu343Pro
ENST00000262186.9:c.1028T>C	ENSP00000262186.5:p.Leu343Pro
ENST00000430723.4:c.680T>C	ENSP00000387657.4:p.Leu227Pro
ENST00000532957.5:n.1251T>C
NM_000238.3:c.1028T>C , LRG_288t1:c.1028T>C	NP_000229.1:p.Leu343Pro
NM_172056.2:c.1028T>C , LRG_288t2:c.1028T>C	NP_742053.1:p.Leu343Pro
XM_011516185.1:c.728T>C	XP_011514487.1:p.Leu243Pro
XM_011516186.1:c.1028T>C	XP_011514488.1:p.Leu343Pro
XM_011516185.2:c.728T>C	XP_011514487.1:p.Leu243Pro
XM_011516186.3:c.1028T>C	XP_011514488.1:p.Leu343Pro
XM_017012195.1:c.878T>C	XP_016867684.1:p.Leu293Pro
XM_017012196.1:c.851T>C	XP_016867685.1:p.Leu284Pro
NM_000238.4:c.1028T>C MANE Select	NP_000229.1:p.Leu343Pro