Canonical Allele Identifier: CA458645578

Gene: KCNH2

Linked Data

• dbSNP Id: rs1805121
• MyVariant Identifiers: chr7:g.150648789T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951701T>G , CM000669.2:g.150951701T>G	GRCh38
NC_000007.13:g.150648789T>G , CM000669.1:g.150648789T>G	GRCh37
NC_000007.12:g.150279722T>G	NCBI36
NG_008916.1:g.31226A>C , LRG_288:g.31226A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.990A>C
ENST00000684241.1:n.2525A>C
ENST00000262186.10:c.1692A>C MANE Select	ENSP00000262186.5:p.Leu564=
ENST00000330883.9:c.672A>C	ENSP00000328531.4:p.Leu224=
ENST00000262186.9:c.1692A>C	ENSP00000262186.5:p.Leu564=
ENST00000330883.8:c.672A>C	ENSP00000328531.4:p.Leu224=
ENST00000430723.4:c.1344A>C	ENSP00000387657.4:p.Leu448=
ENST00000461280.1:n.979A>C
ENST00000473610.5:n.997A>C
ENST00000532957.5:n.1915A>C
NM_000238.3:c.1692A>C , LRG_288t1:c.1692A>C	NP_000229.1:p.Leu564=
NM_001204798.1:c.672A>C	NP_001191727.1:p.Leu224=
NM_172056.2:c.1692A>C , LRG_288t2:c.1692A>C	NP_742053.1:p.Leu564=
NM_172057.2:c.672A>C , LRG_288t3:c.672A>C	NP_742054.1:p.Leu224=
XM_011516185.1:c.1392A>C	XP_011514487.1:p.Leu464=
XM_011516186.1:c.1692A>C	XP_011514488.1:p.Leu564=
XM_011516185.2:c.1392A>C	XP_011514487.1:p.Leu464=
XM_011516186.3:c.1692A>C	XP_011514488.1:p.Leu564=
XM_017012195.1:c.1542A>C	XP_016867684.1:p.Leu514=
XM_017012196.1:c.1515A>C	XP_016867685.1:p.Leu505=
NM_000238.4:c.1692A>C MANE Select	NP_000229.1:p.Leu564=
NM_001204798.2:c.672A>C	NP_001191727.1:p.Leu224=
NM_172057.3:c.672A>C	NP_742054.1:p.Leu224=