Canonical Allele Identifier: CA458871210

Gene: KCNH2

Identifiers and link-outs to other resources

• MyVariant Identifiers: chr7:g.150647305G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950217G>A , CM000669.2:g.150950217G>A	GRCh38
NC_000007.13:g.150647305G>A , CM000669.1:g.150647305G>A	GRCh37
NC_000007.12:g.150278238G>A	NCBI36
NG_008916.1:g.32710C>T , LRG_288:g.32710C>T

Transcript Alleles

HGVS	Amino-acid change
NM_000238.3:c.2349C>T , LRG_288t1:c.2349C>T	NP_000229.1:p.Ser783=
NM_001204798.1:c.1329C>T VV	NP_001191727.1:p.Ser443=
NM_172056.2:c.2349C>T , LRG_288t2:c.2349C>T	NP_742053.1:p.Ser783=
NM_172057.2:c.1329C>T , LRG_288t3:c.1329C>T	NP_742054.1:p.Ser443=
XM_011516185.1:c.2049C>T	XP_011514487.1:p.Ser683=
XM_011516186.1:c.2349C>T	XP_011514488.1:p.Ser783=
XM_011516185.2:c.2049C>T	XP_011514487.1:p.Ser683=
XM_011516186.3:c.2349C>T	XP_011514488.1:p.Ser783=
XM_017012195.1:c.2199C>T	XP_016867684.1:p.Ser733=
XM_017012196.1:c.2172C>T	XP_016867685.1:p.Ser724=
NM_000238.4:c.2349C>T VV MANE Preferred	NP_000229.1:p.Ser783=
NM_001204798.2:c.1329C>T VV	NP_001191727.1:p.Ser443=
ENST00000262186.9:c.2349C>T	ENSP00000262186.5:p.Ser783=
ENST00000330883.8:c.1329C>T	ENSP00000328531.4:p.Ser443=
ENST00000430723.4:c.2001C>T	ENSP00000387657.4:p.Ser667=
ENST00000461280.1:n.1636C>T
ENST00000473610.5:n.1981C>T
ENST00000532957.5:n.2572C>T