Canonical Allele Identifier: CA458646806

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958426-G-C
• MyVariant Identifiers: chr7:g.150655514G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958426G>C , CM000669.2:g.150958426G>C	GRCh38
NC_000007.13:g.150655514G>C , CM000669.1:g.150655514G>C	GRCh37
NC_000007.12:g.150286447G>C	NCBI36
NG_008916.1:g.24501C>G , LRG_288:g.24501C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1382C>G
ENST00000262186.10:c.549C>G MANE Select	ENSP00000262186.5:p.Gly183=
ENST00000262186.9:c.549C>G	ENSP00000262186.5:p.Gly183=
ENST00000430723.4:c.235-34C>G	ENSP00000387657.4:n.235-34C>G
ENST00000532957.5:n.772C>G
NM_000238.3:c.549C>G , LRG_288t1:c.549C>G	NP_000229.1:p.Gly183=
NM_172056.2:c.549C>G , LRG_288t2:c.549C>G	NP_742053.1:p.Gly183=
XM_011516185.1:c.249C>G	XP_011514487.1:p.Gly83=
XM_011516186.1:c.549C>G	XP_011514488.1:p.Gly183=
XM_011516185.2:c.249C>G	XP_011514487.1:p.Gly83=
XM_011516186.3:c.549C>G	XP_011514488.1:p.Gly183=
XM_017012195.1:c.399C>G	XP_016867684.1:p.Gly133=
XM_017012196.1:c.372C>G	XP_016867685.1:p.Gly124=
NM_000238.4:c.549C>G MANE Select	NP_000229.1:p.Gly183=