Canonical Allele Identifier: CA458871362

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950406-G-A
• MyVariant Identifiers: chr7:g.150647494G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950406G>A , CM000669.2:g.150950406G>A	GRCh38
NC_000007.13:g.150647494G>A , CM000669.1:g.150647494G>A	GRCh37
NC_000007.12:g.150278427G>A	NCBI36
NG_008916.1:g.32521C>T , LRG_288:g.32521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1458C>T
ENST00000684241.1:n.2993C>T
ENST00000262186.10:c.2160C>T MANE Select	ENSP00000262186.5:p.Phe720=
ENST00000330883.9:c.1140C>T	ENSP00000328531.4:p.Phe380=
ENST00000262186.9:c.2160C>T	ENSP00000262186.5:p.Phe720=
ENST00000330883.8:c.1140C>T	ENSP00000328531.4:p.Phe380=
ENST00000430723.4:c.1812C>T	ENSP00000387657.4:p.Phe604=
ENST00000461280.1:n.1447C>T
ENST00000473610.5:n.1792C>T
ENST00000532957.5:n.2383C>T
NM_000238.3:c.2160C>T , LRG_288t1:c.2160C>T	NP_000229.1:p.Phe720=
NM_001204798.1:c.1140C>T	NP_001191727.1:p.Phe380=
NM_172056.2:c.2160C>T , LRG_288t2:c.2160C>T	NP_742053.1:p.Phe720=
NM_172057.2:c.1140C>T , LRG_288t3:c.1140C>T	NP_742054.1:p.Phe380=
XM_011516185.1:c.1860C>T	XP_011514487.1:p.Phe620=
XM_011516186.1:c.2160C>T	XP_011514488.1:p.Phe720=
XM_011516185.2:c.1860C>T	XP_011514487.1:p.Phe620=
XM_011516186.3:c.2160C>T	XP_011514488.1:p.Phe720=
XM_017012195.1:c.2010C>T	XP_016867684.1:p.Phe670=
XM_017012196.1:c.1983C>T	XP_016867685.1:p.Phe661=
NM_000238.4:c.2160C>T MANE Select	NP_000229.1:p.Phe720=
NM_001204798.2:c.1140C>T	NP_001191727.1:p.Phe380=
NM_172057.3:c.1140C>T	NP_742054.1:p.Phe380=