Canonical Allele Identifier: CA004300
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67168
ClinVar RCV Id: RCV000057875
dbSNP Id: rs199472892

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952753C>G , CM000669.2:g.150952753C>G GRCh38
NC_000007.13:g.150649841C>G , CM000669.1:g.150649841C>G GRCh37
NC_000007.12:g.150280774C>G NCBI36
NG_008916.1:g.30174G>C , LRG_288:g.30174G>C

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.1229G>C , LRG_288t1:c.1229G>C NP_000229.1:p.Trp410Ser
NM_001204798.1:c.209G>C VV NP_001191727.1:p.Trp70Ser
NM_172056.2:c.1229G>C , LRG_288t2:c.1229G>C NP_742053.1:p.Trp410Ser
NM_172057.2:c.209G>C , LRG_288t3:c.209G>C NP_742054.1:p.Trp70Ser
XM_011516185.1:c.929G>C XP_011514487.1:p.Trp310Ser
XM_011516186.1:c.1229G>C XP_011514488.1:p.Trp410Ser
XM_011516185.2:c.929G>C XP_011514487.1:p.Trp310Ser
XM_011516186.3:c.1229G>C XP_011514488.1:p.Trp410Ser
XM_017012195.1:c.1079G>C XP_016867684.1:p.Trp360Ser
XM_017012196.1:c.1052G>C XP_016867685.1:p.Trp351Ser
ENST00000262186.9:c.1229G>C ENSP00000262186.5:p.Trp410Ser
ENST00000330883.8:c.209G>C ENSP00000328531.4:p.Trp70Ser
ENST00000430723.4:c.881G>C ENSP00000387657.4:p.Trp294Ser
ENST00000461280.1:n.516G>C
ENST00000473610.5:n.534G>C
ENST00000532957.5:n.1452G>C