Canonical Allele Identifier: CA369859550

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649551G>T (hg19) ; chr7:g.150952463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952463G>T , CM000669.2:g.150952463G>T	GRCh38
NC_000007.13:g.150649551G>T , CM000669.1:g.150649551G>T	GRCh37
NC_000007.12:g.150280484G>T	NCBI36
NG_008916.1:g.30464C>A , LRG_288:g.30464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.817C>A
ENST00000684116.1:n.412C>A
ENST00000684241.1:n.2352C>A
ENST00000262186.10:c.1519C>A MANE Select	ENSP00000262186.5:p.Pro507Thr
ENST00000330883.9:c.499C>A	ENSP00000328531.4:p.Pro167Thr
ENST00000262186.9:c.1519C>A	ENSP00000262186.5:p.Pro507Thr
ENST00000330883.8:c.499C>A	ENSP00000328531.4:p.Pro167Thr
ENST00000430723.4:c.1171C>A	ENSP00000387657.4:p.Pro391Thr
ENST00000461280.1:n.806C>A
ENST00000473610.5:n.824C>A
ENST00000532957.5:n.1742C>A
NM_000238.3:c.1519C>A , LRG_288t1:c.1519C>A	NP_000229.1:p.Pro507Thr
NM_001204798.1:c.499C>A	NP_001191727.1:p.Pro167Thr
NM_172056.2:c.1519C>A , LRG_288t2:c.1519C>A	NP_742053.1:p.Pro507Thr
NM_172057.2:c.499C>A , LRG_288t3:c.499C>A	NP_742054.1:p.Pro167Thr
XM_011516185.1:c.1219C>A	XP_011514487.1:p.Pro407Thr
XM_011516186.1:c.1519C>A	XP_011514488.1:p.Pro507Thr
XM_011516185.2:c.1219C>A	XP_011514487.1:p.Pro407Thr
XM_011516186.3:c.1519C>A	XP_011514488.1:p.Pro507Thr
XM_017012195.1:c.1369C>A	XP_016867684.1:p.Pro457Thr
XM_017012196.1:c.1342C>A	XP_016867685.1:p.Pro448Thr
NM_000238.4:c.1519C>A MANE Select	NP_000229.1:p.Pro507Thr
NM_001204798.2:c.499C>A	NP_001191727.1:p.Pro167Thr
NM_172057.3:c.499C>A	NP_742054.1:p.Pro167Thr