Canonical Allele Identifier: CA369856636

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950384-T-C
• MyVariant Identifiers: chr7:g.150647472T>C (hg19) ; chr7:g.150950384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950384T>C , CM000669.2:g.150950384T>C	GRCh38
NC_000007.13:g.150647472T>C , CM000669.1:g.150647472T>C	GRCh37
NC_000007.12:g.150278405T>C	NCBI36
NG_008916.1:g.32543A>G , LRG_288:g.32543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1480A>G
ENST00000684241.1:n.3015A>G
ENST00000262186.10:c.2182A>G MANE Select	ENSP00000262186.5:p.Ile728Val
ENST00000330883.9:c.1162A>G	ENSP00000328531.4:p.Ile388Val
ENST00000262186.9:c.2182A>G	ENSP00000262186.5:p.Ile728Val
ENST00000330883.8:c.1162A>G	ENSP00000328531.4:p.Ile388Val
ENST00000430723.4:c.1834A>G	ENSP00000387657.4:p.Ile612Val
ENST00000461280.1:n.1469A>G
ENST00000473610.5:n.1814A>G
ENST00000532957.5:n.2405A>G
NM_000238.3:c.2182A>G , LRG_288t1:c.2182A>G	NP_000229.1:p.Ile728Val
NM_001204798.1:c.1162A>G	NP_001191727.1:p.Ile388Val
NM_172056.2:c.2182A>G , LRG_288t2:c.2182A>G	NP_742053.1:p.Ile728Val
NM_172057.2:c.1162A>G , LRG_288t3:c.1162A>G	NP_742054.1:p.Ile388Val
XM_011516185.1:c.1882A>G	XP_011514487.1:p.Ile628Val
XM_011516186.1:c.2182A>G	XP_011514488.1:p.Ile728Val
XM_011516185.2:c.1882A>G	XP_011514487.1:p.Ile628Val
XM_011516186.3:c.2182A>G	XP_011514488.1:p.Ile728Val
XM_017012195.1:c.2032A>G	XP_016867684.1:p.Ile678Val
XM_017012196.1:c.2005A>G	XP_016867685.1:p.Ile669Val
NM_000238.4:c.2182A>G MANE Select	NP_000229.1:p.Ile728Val
NM_001204798.2:c.1162A>G	NP_001191727.1:p.Ile388Val
NM_172057.3:c.1162A>G	NP_742054.1:p.Ile388Val