Canonical Allele Identifier: CA242214
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 195689
ClinVar RCV Id: RCV000285972
dbSNP Id: rs794727362
MyVariant Identifiers: chr12:g.52180368A>G (hg19) chr12:g.51786584A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51786584A>G , CM000674.2:g.51786584A>G GRCh38
NC_000012.11:g.52180368A>G , CM000674.1:g.52180368A>G GRCh37
NC_000012.10:g.50466635A>G NCBI36
NG_021180.2:g.200349A>G
NG_021180.3:g.201627A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.3985A>G MANE Plus Clinical ENSP00000346534.4:p.Asn1329Asp
ENST00000548086.3:c.1779A>G
ENST00000627620.5:c.3985A>G MANE Select ENSP00000487583.2:p.Asn1329Asp
ENST00000636945.2:c.2049A>G
ENST00000662684.1:c.3985A>G ENSP00000499636.1:p.Asn1329Asp
ENST00000668547.1:c.3862A>G ENSP00000499691.1:p.Asn1288Asp
ENST00000354534.10:c.3985A>G ENSP00000346534.4:p.Asn1329Asp
ENST00000355133.7:c.3862A>G ENSP00000347255.4:p.Asn1288Asp
ENST00000545061.5:c.3862A>G ENSP00000440360.1:p.Asn1288Asp
ENST00000548086.1:n.236A>G
ENST00000599343.5:c.4018A>G ENSP00000476447.3:p.Asn1340Asp
ENST00000627620.2:c.3985A>G ENSP00000487583.1:p.Asn1329Asp
NM_001177984.2:c.3862A>G NP_001171455.1:p.Asn1288Asp
NM_014191.3:c.3985A>G NP_055006.1:p.Asn1329Asp
XM_006719556.2:c.3985A>G XP_006719619.1:p.Asn1329Asp
XM_011538650.1:c.3985A>G XP_011536952.1:p.Asn1329Asp
XM_011538651.1:c.3985A>G XP_011536953.1:p.Asn1329Asp
NM_001330260.1:c.3985A>G NP_001317189.1:p.Asn1329Asp
XM_006719556.4:c.3985A>G XP_006719619.1:p.Asn1329Asp
XM_011538651.3:c.3985A>G XP_011536953.1:p.Asn1329Asp
XM_017019794.2:c.3985A>G XP_016875283.1:p.Asn1329Asp
XM_017019795.2:c.3862A>G XP_016875284.1:p.Asn1288Asp
XM_017019796.1:c.*83A>G XP_016875285.1:n.*83A>G
NM_001330260.2:c.3985A>G MANE Select NP_001317189.1:p.Asn1329Asp
NM_001369788.1:c.3862A>G NP_001356717.1:p.Asn1288Asp
NM_014191.4:c.3985A>G MANE Plus Clinical NP_055006.1:p.Asn1329Asp
NM_001177984.3:c.3862A>G NP_001171455.1:p.Asn1288Asp
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