LDH info

Canonical Allele Identifier: CA144634
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 60709
ClinVar RCV Id: RCV000054506
dbSNP Id: rs397514738

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51786590C>G , CM000674.2:g.51786590C>G GRCh38
NC_000012.11:g.52180374C>G , CM000674.1:g.52180374C>G GRCh37
NC_000012.10:g.50466641C>G NCBI36
NG_021180.2:g.200355C>G
NG_021180.3:g.201633C>G

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.3868C>G VV NP_001171455.1:p.Leu1290Val
NM_014191.3:c.3991C>G VV NP_055006.1:p.Leu1331Val
XM_006719556.2:c.3991C>G XP_006719619.1:p.Leu1331Val
XM_011538650.1:c.3991C>G XP_011536952.1:p.Leu1331Val
XM_011538651.1:c.3991C>G XP_011536953.1:p.Leu1331Val
NM_001330260.1:c.3991C>G VV NP_001317189.1:p.Leu1331Val
XM_006719556.4:c.3991C>G XP_006719619.1:p.Leu1331Val
XM_011538651.3:c.3991C>G XP_011536953.1:p.Leu1331Val
XM_017019794.2:c.3991C>G XP_016875283.1:p.Leu1331Val
XM_017019795.2:c.3868C>G XP_016875284.1:p.Leu1290Val
XM_017019796.1:c.*89C>G XP_016875285.1:p.=
NM_001330260.2:c.3991C>G VV MANE Preferred NP_001317189.1:p.Leu1331Val
NM_001369788.1:c.3868C>G VV NP_001356717.1:p.Leu1290Val
NM_014191.4:c.3991C>G VV NP_055006.1:p.Leu1331Val
NM_001177984.3:c.3868C>G VV NP_001171455.1:p.Leu1290Val
ENST00000354534.10:c.3991C>G ENSP00000346534.4:p.Leu1331Val
ENST00000355133.7:n.3868C>G ENSP00000347255.4:p.Leu1290Val
ENST00000545061.5:c.3868C>G ENSP00000440360.1:p.Leu1290Val
ENST00000548086.1:n.242C>G
ENST00000599343.5:n.4024C>G ENSP00000476447.3:p.Leu1342Val
ENST00000627620.2:n.3991C>G ENSP00000487583.1:p.Leu1331Val