Canonical Allele Identifier: CA458871614

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952509-G-T
• MyVariant Identifiers: chr7:g.150649597G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952509G>T , CM000669.2:g.150952509G>T	GRCh38
NC_000007.13:g.150649597G>T , CM000669.1:g.150649597G>T	GRCh37
NC_000007.12:g.150280530G>T	NCBI36
NG_008916.1:g.30418C>A , LRG_288:g.30418C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.771C>A
ENST00000684116.1:n.366C>A
ENST00000684241.1:n.2306C>A
ENST00000262186.10:c.1473C>A MANE Select	ENSP00000262186.5:p.Val491=
ENST00000330883.9:c.453C>A	ENSP00000328531.4:p.Val151=
ENST00000262186.9:c.1473C>A	ENSP00000262186.5:p.Val491=
ENST00000330883.8:c.453C>A	ENSP00000328531.4:p.Val151=
ENST00000430723.4:c.1125C>A	ENSP00000387657.4:p.Val375=
ENST00000461280.1:n.760C>A
ENST00000473610.5:n.778C>A
ENST00000532957.5:n.1696C>A
NM_000238.3:c.1473C>A , LRG_288t1:c.1473C>A	NP_000229.1:p.Val491=
NM_001204798.1:c.453C>A	NP_001191727.1:p.Val151=
NM_172056.2:c.1473C>A , LRG_288t2:c.1473C>A	NP_742053.1:p.Val491=
NM_172057.2:c.453C>A , LRG_288t3:c.453C>A	NP_742054.1:p.Val151=
XM_011516185.1:c.1173C>A	XP_011514487.1:p.Val391=
XM_011516186.1:c.1473C>A	XP_011514488.1:p.Val491=
XM_011516185.2:c.1173C>A	XP_011514487.1:p.Val391=
XM_011516186.3:c.1473C>A	XP_011514488.1:p.Val491=
XM_017012195.1:c.1323C>A	XP_016867684.1:p.Val441=
XM_017012196.1:c.1296C>A	XP_016867685.1:p.Val432=
NM_000238.4:c.1473C>A MANE Select	NP_000229.1:p.Val491=
NM_001204798.2:c.453C>A	NP_001191727.1:p.Val151=
NM_172057.3:c.453C>A	NP_742054.1:p.Val151=