Canonical Allele Identifier: CA458871096

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950172-G-A
• MyVariant Identifiers: chr7:g.150647260G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950172G>A , CM000669.2:g.150950172G>A	GRCh38
NC_000007.13:g.150647260G>A , CM000669.1:g.150647260G>A	GRCh37
NC_000007.12:g.150278193G>A	NCBI36
NG_008916.1:g.32755C>T , LRG_288:g.32755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1692C>T
ENST00000684241.1:n.3227C>T
ENST00000262186.10:c.2394C>T MANE Select	ENSP00000262186.5:p.Ile798=
ENST00000330883.9:c.1374C>T	ENSP00000328531.4:p.Ile458=
ENST00000262186.9:c.2394C>T	ENSP00000262186.5:p.Ile798=
ENST00000330883.8:c.1374C>T	ENSP00000328531.4:p.Ile458=
ENST00000430723.4:c.2046C>T	ENSP00000387657.4:p.Ile682=
ENST00000461280.1:n.1681C>T
ENST00000473610.5:n.2026C>T
ENST00000532957.5:n.2617C>T
NM_000238.3:c.2394C>T , LRG_288t1:c.2394C>T	NP_000229.1:p.Ile798=
NM_001204798.1:c.1374C>T	NP_001191727.1:p.Ile458=
NM_172056.2:c.2394C>T , LRG_288t2:c.2394C>T	NP_742053.1:p.Ile798=
NM_172057.2:c.1374C>T , LRG_288t3:c.1374C>T	NP_742054.1:p.Ile458=
XM_011516185.1:c.2094C>T	XP_011514487.1:p.Ile698=
XM_011516186.1:c.2394C>T	XP_011514488.1:p.Ile798=
XM_011516185.2:c.2094C>T	XP_011514487.1:p.Ile698=
XM_011516186.3:c.2394C>T	XP_011514488.1:p.Ile798=
XM_017012195.1:c.2244C>T	XP_016867684.1:p.Ile748=
XM_017012196.1:c.2217C>T	XP_016867685.1:p.Ile739=
NM_000238.4:c.2394C>T MANE Select	NP_000229.1:p.Ile798=
NM_001204798.2:c.1374C>T	NP_001191727.1:p.Ile458=
NM_172057.3:c.1374C>T	NP_742054.1:p.Ile458=