LDH info

Canonical Allele Identifier: CA318280
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 207121
ClinVar RCV Id: RCV000189279
dbSNP Id: rs796053218

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51790416T>C , CM000674.2:g.51790416T>C GRCh38
NC_000012.11:g.52184200T>C , CM000674.1:g.52184200T>C GRCh37
NC_000012.10:g.50470467T>C NCBI36
NG_021180.2:g.204181T>C
NG_021180.3:g.205459T>C

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.4315T>C VV NP_001171455.1:p.Phe1439Leu
NM_014191.3:c.4438T>C VV NP_055006.1:p.Phe1480Leu
XM_006719556.2:c.4438T>C XP_006719619.1:p.Phe1480Leu
XM_011538650.1:c.4438T>C XP_011536952.1:p.Phe1480Leu
XM_011538651.1:c.4438T>C XP_011536953.1:p.Phe1480Leu
NM_001330260.1:c.4438T>C VV NP_001317189.1:p.Phe1480Leu
XM_006719556.4:c.4438T>C XP_006719619.1:p.Phe1480Leu
XM_011538651.3:c.4438T>C XP_011536953.1:p.Phe1480Leu
XM_017019794.2:c.4438T>C XP_016875283.1:p.Phe1480Leu
XM_017019795.2:c.4315T>C XP_016875284.1:p.Phe1439Leu
NM_001330260.2:c.4438T>C VV MANE Preferred NP_001317189.1:p.Phe1480Leu
NM_001369788.1:c.4315T>C VV NP_001356717.1:p.Phe1439Leu
NM_014191.4:c.4438T>C VV NP_055006.1:p.Phe1480Leu
NM_001177984.3:c.4315T>C VV NP_001171455.1:p.Phe1439Leu
ENST00000354534.10:c.4438T>C ENSP00000346534.4:p.Phe1480Leu
ENST00000355133.7:n.4315T>C ENSP00000347255.4:p.Phe1439Leu
ENST00000545061.5:c.4315T>C ENSP00000440360.1:p.Phe1439Leu
ENST00000599343.5:n.4471T>C ENSP00000476447.3:p.Phe1491Leu
ENST00000627620.2:n.4438T>C ENSP00000487583.1:p.Phe1480Leu