Canonical Allele Identifier: CA369862469

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958182-A-C
• MyVariant Identifiers: chr7:g.150655270A>C (hg19) ; chr7:g.150958182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958182A>C , CM000669.2:g.150958182A>C	GRCh38
NC_000007.13:g.150655270A>C , CM000669.1:g.150655270A>C	GRCh37
NC_000007.12:g.150286203A>C	NCBI36
NG_008916.1:g.24745T>G , LRG_288:g.24745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1626T>G
ENST00000262186.10:c.793T>G MANE Select	ENSP00000262186.5:p.Cys265Gly
ENST00000262186.9:c.793T>G	ENSP00000262186.5:p.Cys265Gly
ENST00000430723.4:c.445T>G	ENSP00000387657.4:p.Cys149Gly
ENST00000532957.5:n.1016T>G
NM_000238.3:c.793T>G , LRG_288t1:c.793T>G	NP_000229.1:p.Cys265Gly
NM_172056.2:c.793T>G , LRG_288t2:c.793T>G	NP_742053.1:p.Cys265Gly
XM_011516185.1:c.493T>G	XP_011514487.1:p.Cys165Gly
XM_011516186.1:c.793T>G	XP_011514488.1:p.Cys265Gly
XM_011516185.2:c.493T>G	XP_011514487.1:p.Cys165Gly
XM_011516186.3:c.793T>G	XP_011514488.1:p.Cys265Gly
XM_017012195.1:c.643T>G	XP_016867684.1:p.Cys215Gly
XM_017012196.1:c.616T>G	XP_016867685.1:p.Cys206Gly
NM_000238.4:c.793T>G MANE Select	NP_000229.1:p.Cys265Gly