Canonical Allele Identifier: CA369863836

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656779T>G (hg19) ; chr7:g.150959691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959691T>G , CM000669.2:g.150959691T>G	GRCh38
NC_000007.13:g.150656779T>G , CM000669.1:g.150656779T>G	GRCh37
NC_000007.12:g.150287712T>G	NCBI36
NG_008916.1:g.23236A>C , LRG_288:g.23236A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1186A>C
ENST00000262186.10:c.353A>C MANE Select	ENSP00000262186.5:p.Glu118Ala
ENST00000262186.9:c.353A>C	ENSP00000262186.5:p.Glu118Ala
ENST00000430723.4:c.176A>C	ENSP00000387657.4:p.Glu59Ala
ENST00000532957.5:n.576A>C
NM_000238.3:c.353A>C , LRG_288t1:c.353A>C	NP_000229.1:p.Glu118Ala
NM_172056.2:c.353A>C , LRG_288t2:c.353A>C	NP_742053.1:p.Glu118Ala
XM_011516185.1:c.53A>C	XP_011514487.1:p.Glu18Ala
XM_011516186.1:c.353A>C	XP_011514488.1:p.Glu118Ala
XM_011516185.2:c.53A>C	XP_011514487.1:p.Glu18Ala
XM_011516186.3:c.353A>C	XP_011514488.1:p.Glu118Ala
XM_017012195.1:c.203A>C	XP_016867684.1:p.Glu68Ala
XM_017012196.1:c.176A>C	XP_016867685.1:p.Glu59Ala
NM_000238.4:c.353A>C MANE Select	NP_000229.1:p.Glu118Ala