Canonical Allele Identifier: CA369857812

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648544A>C (hg19) ; chr7:g.150951456A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951456A>C , CM000669.2:g.150951456A>C	GRCh38
NC_000007.13:g.150648544A>C , CM000669.1:g.150648544A>C	GRCh37
NC_000007.12:g.150279477A>C	NCBI36
NG_008916.1:g.31471T>G , LRG_288:g.31471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1235T>G
ENST00000683359.1:n.61T>G
ENST00000684241.1:n.2770T>G
ENST00000262186.10:c.1937T>G MANE Select	ENSP00000262186.5:p.Leu646Arg
ENST00000330883.9:c.917T>G	ENSP00000328531.4:p.Leu306Arg
ENST00000262186.9:c.1937T>G	ENSP00000262186.5:p.Leu646Arg
ENST00000330883.8:c.917T>G	ENSP00000328531.4:p.Leu306Arg
ENST00000430723.4:c.1589T>G	ENSP00000387657.4:p.Leu530Arg
ENST00000461280.1:n.1224T>G
ENST00000473610.5:n.1242T>G
ENST00000532957.5:n.2160T>G
NM_000238.3:c.1937T>G , LRG_288t1:c.1937T>G	NP_000229.1:p.Leu646Arg
NM_001204798.1:c.917T>G	NP_001191727.1:p.Leu306Arg
NM_172056.2:c.1937T>G , LRG_288t2:c.1937T>G	NP_742053.1:p.Leu646Arg
NM_172057.2:c.917T>G , LRG_288t3:c.917T>G	NP_742054.1:p.Leu306Arg
XM_011516185.1:c.1637T>G	XP_011514487.1:p.Leu546Arg
XM_011516186.1:c.1937T>G	XP_011514488.1:p.Leu646Arg
XM_011516185.2:c.1637T>G	XP_011514487.1:p.Leu546Arg
XM_011516186.3:c.1937T>G	XP_011514488.1:p.Leu646Arg
XM_017012195.1:c.1787T>G	XP_016867684.1:p.Leu596Arg
XM_017012196.1:c.1760T>G	XP_016867685.1:p.Leu587Arg
NM_000238.4:c.1937T>G MANE Select	NP_000229.1:p.Leu646Arg
NM_001204798.2:c.917T>G	NP_001191727.1:p.Leu306Arg
NM_172057.3:c.917T>G	NP_742054.1:p.Leu306Arg