Canonical Allele Identifier: CA458871498

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648636G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951548G>T , CM000669.2:g.150951548G>T	GRCh38
NC_000007.13:g.150648636G>T , CM000669.1:g.150648636G>T	GRCh37
NC_000007.12:g.150279569G>T	NCBI36
NG_008916.1:g.31379C>A , LRG_288:g.31379C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1143C>A
ENST00000684241.1:n.2678C>A
ENST00000262186.10:c.1845C>A MANE Select	ENSP00000262186.5:p.Leu615=
ENST00000330883.9:c.825C>A	ENSP00000328531.4:p.Leu275=
ENST00000262186.9:c.1845C>A	ENSP00000262186.5:p.Leu615=
ENST00000330883.8:c.825C>A	ENSP00000328531.4:p.Leu275=
ENST00000430723.4:c.1497C>A	ENSP00000387657.4:p.Leu499=
ENST00000461280.1:n.1132C>A
ENST00000473610.5:n.1150C>A
ENST00000532957.5:n.2068C>A
NM_000238.3:c.1845C>A , LRG_288t1:c.1845C>A	NP_000229.1:p.Leu615=
NM_001204798.1:c.825C>A	NP_001191727.1:p.Leu275=
NM_172056.2:c.1845C>A , LRG_288t2:c.1845C>A	NP_742053.1:p.Leu615=
NM_172057.2:c.825C>A , LRG_288t3:c.825C>A	NP_742054.1:p.Leu275=
XM_011516185.1:c.1545C>A	XP_011514487.1:p.Leu515=
XM_011516186.1:c.1845C>A	XP_011514488.1:p.Leu615=
XM_011516185.2:c.1545C>A	XP_011514487.1:p.Leu515=
XM_011516186.3:c.1845C>A	XP_011514488.1:p.Leu615=
XM_017012195.1:c.1695C>A	XP_016867684.1:p.Leu565=
XM_017012196.1:c.1668C>A	XP_016867685.1:p.Leu556=
NM_000238.4:c.1845C>A MANE Select	NP_000229.1:p.Leu615=
NM_001204798.2:c.825C>A	NP_001191727.1:p.Leu275=
NM_172057.3:c.825C>A	NP_742054.1:p.Leu275=