Canonical Allele Identifier: CA458646942

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801500229
• MyVariant Identifiers: chr7:g.150656769A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959681A>G , CM000669.2:g.150959681A>G	GRCh38
NC_000007.13:g.150656769A>G , CM000669.1:g.150656769A>G	GRCh37
NC_000007.12:g.150287702A>G	NCBI36
NG_008916.1:g.23246T>C , LRG_288:g.23246T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1196T>C
ENST00000262186.10:c.363T>C MANE Select	ENSP00000262186.5:p.Ala121=
ENST00000262186.9:c.363T>C	ENSP00000262186.5:p.Ala121=
ENST00000430723.4:c.186T>C	ENSP00000387657.4:p.Ala62=
ENST00000532957.5:n.586T>C
NM_000238.3:c.363T>C , LRG_288t1:c.363T>C	NP_000229.1:p.Ala121=
NM_172056.2:c.363T>C , LRG_288t2:c.363T>C	NP_742053.1:p.Ala121=
XM_011516185.1:c.63T>C	XP_011514487.1:p.Ala21=
XM_011516186.1:c.363T>C	XP_011514488.1:p.Ala121=
XM_011516185.2:c.63T>C	XP_011514487.1:p.Ala21=
XM_011516186.3:c.363T>C	XP_011514488.1:p.Ala121=
XM_017012195.1:c.213T>C	XP_016867684.1:p.Ala71=
XM_017012196.1:c.186T>C	XP_016867685.1:p.Ala62=
NM_000238.4:c.363T>C MANE Select	NP_000229.1:p.Ala121=