Canonical Allele Identifier: CA369857816

Gene: KCNH2

Linked Data

• COSMIC: COSM5510272 ; COSM5510273 ; COSM5510274
• MyVariant Identifiers: chr7:g.150648545G>A (hg19) ; chr7:g.150951457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951457G>A , CM000669.2:g.150951457G>A	GRCh38
NC_000007.13:g.150648545G>A , CM000669.1:g.150648545G>A	GRCh37
NC_000007.12:g.150279478G>A	NCBI36
NG_008916.1:g.31470C>T , LRG_288:g.31470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1234C>T
ENST00000683359.1:n.60C>T
ENST00000684241.1:n.2769C>T
ENST00000262186.10:c.1936C>T MANE Select	ENSP00000262186.5:p.Leu646Phe
ENST00000330883.9:c.916C>T	ENSP00000328531.4:p.Leu306Phe
ENST00000262186.9:c.1936C>T	ENSP00000262186.5:p.Leu646Phe
ENST00000330883.8:c.916C>T	ENSP00000328531.4:p.Leu306Phe
ENST00000430723.4:c.1588C>T	ENSP00000387657.4:p.Leu530Phe
ENST00000461280.1:n.1223C>T
ENST00000473610.5:n.1241C>T
ENST00000532957.5:n.2159C>T
NM_000238.3:c.1936C>T , LRG_288t1:c.1936C>T	NP_000229.1:p.Leu646Phe
NM_001204798.1:c.916C>T	NP_001191727.1:p.Leu306Phe
NM_172056.2:c.1936C>T , LRG_288t2:c.1936C>T	NP_742053.1:p.Leu646Phe
NM_172057.2:c.916C>T , LRG_288t3:c.916C>T	NP_742054.1:p.Leu306Phe
XM_011516185.1:c.1636C>T	XP_011514487.1:p.Leu546Phe
XM_011516186.1:c.1936C>T	XP_011514488.1:p.Leu646Phe
XM_011516185.2:c.1636C>T	XP_011514487.1:p.Leu546Phe
XM_011516186.3:c.1936C>T	XP_011514488.1:p.Leu646Phe
XM_017012195.1:c.1786C>T	XP_016867684.1:p.Leu596Phe
XM_017012196.1:c.1759C>T	XP_016867685.1:p.Leu587Phe
NM_000238.4:c.1936C>T MANE Select	NP_000229.1:p.Leu646Phe
NM_001204798.2:c.916C>T	NP_001191727.1:p.Leu306Phe
NM_172057.3:c.916C>T	NP_742054.1:p.Leu306Phe