Canonical Allele Identifier: CA458644806

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947348-G-T
• MyVariant Identifiers: chr7:g.150644436G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947348G>T , CM000669.2:g.150947348G>T	GRCh38
NC_000007.13:g.150644436G>T , CM000669.1:g.150644436G>T	GRCh37
NC_000007.12:g.150275369G>T	NCBI36
NG_008916.1:g.35579C>A , LRG_288:g.35579C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3965C>A
ENST00000262186.10:c.3132C>A MANE Select	ENSP00000262186.5:p.Ala1044=
ENST00000330883.9:c.2112C>A	ENSP00000328531.4:p.Ala704=
ENST00000262186.9:c.3132C>A	ENSP00000262186.5:p.Ala1044=
ENST00000330883.8:c.2112C>A	ENSP00000328531.4:p.Ala704=
NM_000238.3:c.3132C>A , LRG_288t1:c.3132C>A	NP_000229.1:p.Ala1044=
NM_172057.2:c.2112C>A , LRG_288t3:c.2112C>A	NP_742054.1:p.Ala704=
XM_011516185.1:c.2832C>A	XP_011514487.1:p.Ala944=
XM_011516185.2:c.2832C>A	XP_011514487.1:p.Ala944=
XM_017012195.1:c.2982C>A	XP_016867684.1:p.Ala994=
XM_017012196.1:c.2955C>A	XP_016867685.1:p.Ala985=
NM_000238.4:c.3132C>A MANE Select	NP_000229.1:p.Ala1044=
NM_172057.3:c.2112C>A	NP_742054.1:p.Ala704=