Canonical Allele Identifier: CA169081312

Gene: KCNH2

Linked Data

• dbSNP Id: rs1009109609
• gnomAD v4: 7-150958279-A-G
• MyVariant Identifiers: chr7:g.150655367A>G (hg19) ; chr7:g.150958279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958279A>G , CM000669.2:g.150958279A>G	GRCh38
NC_000007.13:g.150655367A>G , CM000669.1:g.150655367A>G	GRCh37
NC_000007.12:g.150286300A>G	NCBI36
NG_008916.1:g.24648T>C , LRG_288:g.24648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1529T>C
ENST00000262186.10:c.696T>C MANE Select	ENSP00000262186.5:p.Arg232=
ENST00000262186.9:c.696T>C	ENSP00000262186.5:p.Arg232=
ENST00000430723.4:c.348T>C	ENSP00000387657.4:p.Arg116=
ENST00000532957.5:n.919T>C
NM_000238.3:c.696T>C , LRG_288t1:c.696T>C	NP_000229.1:p.Arg232=
NM_172056.2:c.696T>C , LRG_288t2:c.696T>C	NP_742053.1:p.Arg232=
XM_011516185.1:c.396T>C	XP_011514487.1:p.Arg132=
XM_011516186.1:c.696T>C	XP_011514488.1:p.Arg232=
XM_011516185.2:c.396T>C	XP_011514487.1:p.Arg132=
XM_011516186.3:c.696T>C	XP_011514488.1:p.Arg232=
XM_017012195.1:c.546T>C	XP_016867684.1:p.Arg182=
XM_017012196.1:c.519T>C	XP_016867685.1:p.Arg173=
NM_000238.4:c.696T>C MANE Select	NP_000229.1:p.Arg232=