Canonical Allele Identifier: CA458646817

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958435-C-A
• MyVariant Identifiers: chr7:g.150655523C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958435C>A , CM000669.2:g.150958435C>A	GRCh38
NC_000007.13:g.150655523C>A , CM000669.1:g.150655523C>A	GRCh37
NC_000007.12:g.150286456C>A	NCBI36
NG_008916.1:g.24492G>T , LRG_288:g.24492G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1373G>T
ENST00000262186.10:c.540G>T MANE Select	ENSP00000262186.5:p.Val180=
ENST00000262186.9:c.540G>T	ENSP00000262186.5:p.Val180=
ENST00000430723.4:c.235-43G>T	ENSP00000387657.4:n.235-43G>T
ENST00000532957.5:n.763G>T
NM_000238.3:c.540G>T , LRG_288t1:c.540G>T	NP_000229.1:p.Val180=
NM_172056.2:c.540G>T , LRG_288t2:c.540G>T	NP_742053.1:p.Val180=
XM_011516185.1:c.240G>T	XP_011514487.1:p.Val80=
XM_011516186.1:c.540G>T	XP_011514488.1:p.Val180=
XM_011516185.2:c.240G>T	XP_011514487.1:p.Val80=
XM_011516186.3:c.540G>T	XP_011514488.1:p.Val180=
XM_017012195.1:c.390G>T	XP_016867684.1:p.Val130=
XM_017012196.1:c.363G>T	XP_016867685.1:p.Val121=
NM_000238.4:c.540G>T MANE Select	NP_000229.1:p.Val180=