LDH info

Canonical Allele Identifier: CA318248
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 207105
ClinVar RCV Id: RCV000189260
dbSNP Id: rs796053209

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51702879A>G , CM000674.2:g.51702879A>G GRCh38
NC_000012.11:g.52096663A>G , CM000674.1:g.52096663A>G GRCh37
NC_000012.10:g.50382930A>G NCBI36
NG_021180.2:g.116644A>G
NG_021180.3:g.117922A>G

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.1099A>G VV NP_001171455.1:p.Met367Val
NM_014191.3:c.1099A>G VV NP_055006.1:p.Met367Val
XM_006719556.2:c.1099A>G XP_006719619.1:p.Met367Val
XM_011538650.1:c.1099A>G XP_011536952.1:p.Met367Val
XM_011538651.1:c.1099A>G XP_011536953.1:p.Met367Val
NM_001330260.1:c.1099A>G VV NP_001317189.1:p.Met367Val
XM_006719556.4:c.1099A>G XP_006719619.1:p.Met367Val
XM_011538651.3:c.1099A>G XP_011536953.1:p.Met367Val
XM_017019794.2:c.1099A>G XP_016875283.1:p.Met367Val
XM_017019795.2:c.1099A>G XP_016875284.1:p.Met367Val
XM_017019796.1:c.1099A>G XP_016875285.1:p.Met367Val
NM_001330260.2:c.1099A>G VV MANE Preferred NP_001317189.1:p.Met367Val
NM_001369788.1:c.1099A>G VV NP_001356717.1:p.Met367Val
NM_014191.4:c.1099A>G VV NP_055006.1:p.Met367Val
NM_001177984.3:c.1099A>G VV NP_001171455.1:p.Met367Val
ENST00000354534.10:c.1099A>G ENSP00000346534.4:p.Met367Val
ENST00000355133.7:n.1099A>G ENSP00000347255.4:p.Met367Val
ENST00000545061.5:c.1099A>G ENSP00000440360.1:p.Met367Val
ENST00000550891.4:n.1227A>G
ENST00000551216.2:n.649A>G ENSP00000447567.2:p.Met217Val
ENST00000599343.5:n.1099A>G ENSP00000476447.3:p.Met367Val
ENST00000627620.2:n.1099A>G ENSP00000487583.1:p.Met367Val