Canonical Allele Identifier: CA458872210

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958267-A-C
• MyVariant Identifiers: chr7:g.150655355A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958267A>C , CM000669.2:g.150958267A>C	GRCh38
NC_000007.13:g.150655355A>C , CM000669.1:g.150655355A>C	GRCh37
NC_000007.12:g.150286288A>C	NCBI36
NG_008916.1:g.24660T>G , LRG_288:g.24660T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1541T>G
ENST00000262186.10:c.708T>G MANE Select	ENSP00000262186.5:p.Gly236=
ENST00000262186.9:c.708T>G	ENSP00000262186.5:p.Gly236=
ENST00000430723.4:c.360T>G	ENSP00000387657.4:p.Gly120=
ENST00000532957.5:n.931T>G
NM_000238.3:c.708T>G , LRG_288t1:c.708T>G	NP_000229.1:p.Gly236=
NM_172056.2:c.708T>G , LRG_288t2:c.708T>G	NP_742053.1:p.Gly236=
XM_011516185.1:c.408T>G	XP_011514487.1:p.Gly136=
XM_011516186.1:c.708T>G	XP_011514488.1:p.Gly236=
XM_011516185.2:c.408T>G	XP_011514487.1:p.Gly136=
XM_011516186.3:c.708T>G	XP_011514488.1:p.Gly236=
XM_017012195.1:c.558T>G	XP_016867684.1:p.Gly186=
XM_017012196.1:c.531T>G	XP_016867685.1:p.Gly177=
NM_000238.4:c.708T>G MANE Select	NP_000229.1:p.Gly236=