Canonical Allele Identifier: CA458871547

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648723C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951635C>G , CM000669.2:g.150951635C>G	GRCh38
NC_000007.13:g.150648723C>G , CM000669.1:g.150648723C>G	GRCh37
NC_000007.12:g.150279656C>G	NCBI36
NG_008916.1:g.31292G>C , LRG_288:g.31292G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1056G>C
ENST00000684241.1:n.2591G>C
ENST00000262186.10:c.1758G>C MANE Select	ENSP00000262186.5:p.Leu586=
ENST00000330883.9:c.738G>C	ENSP00000328531.4:p.Leu246=
ENST00000262186.9:c.1758G>C	ENSP00000262186.5:p.Leu586=
ENST00000330883.8:c.738G>C	ENSP00000328531.4:p.Leu246=
ENST00000430723.4:c.1410G>C	ENSP00000387657.4:p.Leu470=
ENST00000461280.1:n.1045G>C
ENST00000473610.5:n.1063G>C
ENST00000532957.5:n.1981G>C
NM_000238.3:c.1758G>C , LRG_288t1:c.1758G>C	NP_000229.1:p.Leu586=
NM_001204798.1:c.738G>C	NP_001191727.1:p.Leu246=
NM_172056.2:c.1758G>C , LRG_288t2:c.1758G>C	NP_742053.1:p.Leu586=
NM_172057.2:c.738G>C , LRG_288t3:c.738G>C	NP_742054.1:p.Leu246=
XM_011516185.1:c.1458G>C	XP_011514487.1:p.Leu486=
XM_011516186.1:c.1758G>C	XP_011514488.1:p.Leu586=
XM_011516185.2:c.1458G>C	XP_011514487.1:p.Leu486=
XM_011516186.3:c.1758G>C	XP_011514488.1:p.Leu586=
XM_017012195.1:c.1608G>C	XP_016867684.1:p.Leu536=
XM_017012196.1:c.1581G>C	XP_016867685.1:p.Leu527=
NM_000238.4:c.1758G>C MANE Select	NP_000229.1:p.Leu586=
NM_001204798.2:c.738G>C	NP_001191727.1:p.Leu246=
NM_172057.3:c.738G>C	NP_742054.1:p.Leu246=