Canonical Allele Identifier: CA369859999

Gene: KCNH2

Linked Data

• dbSNP Id: rs1419201106
• MyVariant Identifiers: chr7:g.150649752G>T (hg19) ; chr7:g.150952664G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952664G>T , CM000669.2:g.150952664G>T	GRCh38
NC_000007.13:g.150649752G>T , CM000669.1:g.150649752G>T	GRCh37
NC_000007.12:g.150280685G>T	NCBI36
NG_008916.1:g.30263C>A , LRG_288:g.30263C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.616C>A
ENST00000684116.1:n.211C>A
ENST00000684241.1:n.2151C>A
ENST00000262186.10:c.1318C>A MANE Select	ENSP00000262186.5:p.Pro440Thr
ENST00000330883.9:c.298C>A	ENSP00000328531.4:p.Pro100Thr
ENST00000262186.9:c.1318C>A	ENSP00000262186.5:p.Pro440Thr
ENST00000330883.8:c.298C>A	ENSP00000328531.4:p.Pro100Thr
ENST00000430723.4:c.970C>A	ENSP00000387657.4:p.Pro324Thr
ENST00000461280.1:n.605C>A
ENST00000473610.5:n.623C>A
ENST00000532957.5:n.1541C>A
NM_000238.3:c.1318C>A , LRG_288t1:c.1318C>A	NP_000229.1:p.Pro440Thr
NM_001204798.1:c.298C>A	NP_001191727.1:p.Pro100Thr
NM_172056.2:c.1318C>A , LRG_288t2:c.1318C>A	NP_742053.1:p.Pro440Thr
NM_172057.2:c.298C>A , LRG_288t3:c.298C>A	NP_742054.1:p.Pro100Thr
XM_011516185.1:c.1018C>A	XP_011514487.1:p.Pro340Thr
XM_011516186.1:c.1318C>A	XP_011514488.1:p.Pro440Thr
XM_011516185.2:c.1018C>A	XP_011514487.1:p.Pro340Thr
XM_011516186.3:c.1318C>A	XP_011514488.1:p.Pro440Thr
XM_017012195.1:c.1168C>A	XP_016867684.1:p.Pro390Thr
XM_017012196.1:c.1141C>A	XP_016867685.1:p.Pro381Thr
NM_000238.4:c.1318C>A MANE Select	NP_000229.1:p.Pro440Thr
NM_001204798.2:c.298C>A	NP_001191727.1:p.Pro100Thr
NM_172057.3:c.298C>A	NP_742054.1:p.Pro100Thr