Canonical Allele Identifier: CA458645591

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951734-G-A
• MyVariant Identifiers: chr7:g.150648822G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951734G>A , CM000669.2:g.150951734G>A	GRCh38
NC_000007.13:g.150648822G>A , CM000669.1:g.150648822G>A	GRCh37
NC_000007.12:g.150279755G>A	NCBI36
NG_008916.1:g.31193C>T , LRG_288:g.31193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.957C>T
ENST00000684116.1:n.552C>T
ENST00000684241.1:n.2492C>T
ENST00000262186.10:c.1659C>T MANE Select	ENSP00000262186.5:p.Leu553=
ENST00000330883.9:c.639C>T	ENSP00000328531.4:p.Leu213=
ENST00000262186.9:c.1659C>T	ENSP00000262186.5:p.Leu553=
ENST00000330883.8:c.639C>T	ENSP00000328531.4:p.Leu213=
ENST00000430723.4:c.1311C>T	ENSP00000387657.4:p.Leu437=
ENST00000461280.1:n.946C>T
ENST00000473610.5:n.964C>T
ENST00000532957.5:n.1882C>T
NM_000238.3:c.1659C>T , LRG_288t1:c.1659C>T	NP_000229.1:p.Leu553=
NM_001204798.1:c.639C>T	NP_001191727.1:p.Leu213=
NM_172056.2:c.1659C>T , LRG_288t2:c.1659C>T	NP_742053.1:p.Leu553=
NM_172057.2:c.639C>T , LRG_288t3:c.639C>T	NP_742054.1:p.Leu213=
XM_011516185.1:c.1359C>T	XP_011514487.1:p.Leu453=
XM_011516186.1:c.1659C>T	XP_011514488.1:p.Leu553=
XM_011516185.2:c.1359C>T	XP_011514487.1:p.Leu453=
XM_011516186.3:c.1659C>T	XP_011514488.1:p.Leu553=
XM_017012195.1:c.1509C>T	XP_016867684.1:p.Leu503=
XM_017012196.1:c.1482C>T	XP_016867685.1:p.Leu494=
NM_000238.4:c.1659C>T MANE Select	NP_000229.1:p.Leu553=
NM_001204798.2:c.639C>T	NP_001191727.1:p.Leu213=
NM_172057.3:c.639C>T	NP_742054.1:p.Leu213=