Canonical Allele Identifier: CA2573141874

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1638307
• ClinVar RCV Id: RCV002134005
• dbSNP Id: rs2116997072

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957281G>C , CM000669.2:g.150957281G>C	GRCh38
NC_000007.13:g.150654369G>C , CM000669.1:g.150654369G>C	GRCh37
NC_000007.12:g.150285302G>C	NCBI36
NG_008916.1:g.25646C>G , LRG_288:g.25646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+10C>G
ENST00000262186.10:c.1128+10C>G MANE Select	ENSP00000262186.5:n.1128+10C>G
ENST00000262186.9:c.1128+10C>G	ENSP00000262186.5:n.1128+10C>G
ENST00000430723.4:c.780+10C>G	ENSP00000387657.4:n.780+10C>G
ENST00000532957.5:n.1351+10C>G
NM_000238.3:c.1128+10C>G , LRG_288t1:c.1128+10C>G	NP_000229.1:n.1128+10C>G
NM_172056.2:c.1128+10C>G , LRG_288t2:c.1128+10C>G	NP_742053.1:n.1128+10C>G
XM_011516185.1:c.828+10C>G	XP_011514487.1:n.828+10C>G
XM_011516186.1:c.1128+10C>G	XP_011514488.1:n.1128+10C>G
XM_011516185.2:c.828+10C>G	XP_011514487.1:n.828+10C>G
XM_011516186.3:c.1128+10C>G	XP_011514488.1:n.1128+10C>G
XM_017012195.1:c.978+10C>G	XP_016867684.1:n.978+10C>G
XM_017012196.1:c.951+10C>G	XP_016867685.1:n.951+10C>G
NM_000238.4:c.1128+10C>G MANE Select	NP_000229.1:n.1128+10C>G