Canonical Allele Identifier: CA369861622

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801409576
• gnomAD v3: 7-150957392-G-A
• gnomAD v4: 7-150957392-G-A
• MyVariant Identifiers: chr7:g.150654480G>A (hg19) ; chr7:g.150957392G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1860C>T
ENST00000262186.10:c.1027C>T MANE Select	ENSP00000262186.5:p.Leu343Phe
ENST00000262186.9:c.1027C>T	ENSP00000262186.5:p.Leu343Phe
ENST00000430723.4:c.679C>T	ENSP00000387657.4:p.Leu227Phe
ENST00000532957.5:n.1250C>T
NM_000238.3:c.1027C>T , LRG_288t1:c.1027C>T	NP_000229.1:p.Leu343Phe
NM_172056.2:c.1027C>T , LRG_288t2:c.1027C>T	NP_742053.1:p.Leu343Phe
XM_011516185.1:c.727C>T	XP_011514487.1:p.Leu243Phe
XM_011516186.1:c.1027C>T	XP_011514488.1:p.Leu343Phe
XM_011516185.2:c.727C>T	XP_011514487.1:p.Leu243Phe
XM_011516186.3:c.1027C>T	XP_011514488.1:p.Leu343Phe
XM_017012195.1:c.877C>T	XP_016867684.1:p.Leu293Phe
XM_017012196.1:c.850C>T	XP_016867685.1:p.Leu284Phe
NM_000238.4:c.1027C>T MANE Select	NP_000229.1:p.Leu343Phe