Canonical Allele Identifier: CA369858148

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648740A>C (hg19) ; chr7:g.150951652A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951652A>C , CM000669.2:g.150951652A>C	GRCh38
NC_000007.13:g.150648740A>C , CM000669.1:g.150648740A>C	GRCh37
NC_000007.12:g.150279673A>C	NCBI36
NG_008916.1:g.31275T>G , LRG_288:g.31275T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1039T>G
ENST00000684241.1:n.2574T>G
ENST00000262186.10:c.1741T>G MANE Select	ENSP00000262186.5:p.Ser581Ala
ENST00000330883.9:c.721T>G	ENSP00000328531.4:p.Ser241Ala
ENST00000262186.9:c.1741T>G	ENSP00000262186.5:p.Ser581Ala
ENST00000330883.8:c.721T>G	ENSP00000328531.4:p.Ser241Ala
ENST00000430723.4:c.1393T>G	ENSP00000387657.4:p.Ser465Ala
ENST00000461280.1:n.1028T>G
ENST00000473610.5:n.1046T>G
ENST00000532957.5:n.1964T>G
NM_000238.3:c.1741T>G , LRG_288t1:c.1741T>G	NP_000229.1:p.Ser581Ala
NM_001204798.1:c.721T>G	NP_001191727.1:p.Ser241Ala
NM_172056.2:c.1741T>G , LRG_288t2:c.1741T>G	NP_742053.1:p.Ser581Ala
NM_172057.2:c.721T>G , LRG_288t3:c.721T>G	NP_742054.1:p.Ser241Ala
XM_011516185.1:c.1441T>G	XP_011514487.1:p.Ser481Ala
XM_011516186.1:c.1741T>G	XP_011514488.1:p.Ser581Ala
XM_011516185.2:c.1441T>G	XP_011514487.1:p.Ser481Ala
XM_011516186.3:c.1741T>G	XP_011514488.1:p.Ser581Ala
XM_017012195.1:c.1591T>G	XP_016867684.1:p.Ser531Ala
XM_017012196.1:c.1564T>G	XP_016867685.1:p.Ser522Ala
NM_000238.4:c.1741T>G MANE Select	NP_000229.1:p.Ser581Ala
NM_001204798.2:c.721T>G	NP_001191727.1:p.Ser241Ala
NM_172057.3:c.721T>G	NP_742054.1:p.Ser241Ala