Canonical Allele Identifier: CA458645490

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648195A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951107A>C , CM000669.2:g.150951107A>C	GRCh38
NC_000007.13:g.150648195A>C , CM000669.1:g.150648195A>C	GRCh37
NC_000007.12:g.150279128A>C	NCBI36
NG_008916.1:g.31820T>G , LRG_288:g.31820T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1257T>G
ENST00000683359.1:n.83T>G
ENST00000684241.1:n.2792T>G
ENST00000262186.10:c.1959T>G MANE Select	ENSP00000262186.5:p.Ala653=
ENST00000330883.9:c.939T>G	ENSP00000328531.4:p.Ala313=
ENST00000262186.9:c.1959T>G	ENSP00000262186.5:p.Ala653=
ENST00000330883.8:c.939T>G	ENSP00000328531.4:p.Ala313=
ENST00000430723.4:c.1611T>G	ENSP00000387657.4:p.Ala537=
ENST00000461280.1:n.1246T>G
ENST00000473610.5:n.1591T>G
ENST00000532957.5:n.2182T>G
NM_000238.3:c.1959T>G , LRG_288t1:c.1959T>G	NP_000229.1:p.Ala653=
NM_001204798.1:c.939T>G	NP_001191727.1:p.Ala313=
NM_172056.2:c.1959T>G , LRG_288t2:c.1959T>G	NP_742053.1:p.Ala653=
NM_172057.2:c.939T>G , LRG_288t3:c.939T>G	NP_742054.1:p.Ala313=
XM_011516185.1:c.1659T>G	XP_011514487.1:p.Ala553=
XM_011516186.1:c.1959T>G	XP_011514488.1:p.Ala653=
XM_011516185.2:c.1659T>G	XP_011514487.1:p.Ala553=
XM_011516186.3:c.1959T>G	XP_011514488.1:p.Ala653=
XM_017012195.1:c.1809T>G	XP_016867684.1:p.Ala603=
XM_017012196.1:c.1782T>G	XP_016867685.1:p.Ala594=
NM_000238.4:c.1959T>G MANE Select	NP_000229.1:p.Ala653=
NM_001204798.2:c.939T>G	NP_001191727.1:p.Ala313=
NM_172057.3:c.939T>G	NP_742054.1:p.Ala313=