Canonical Allele Identifier: CA479788106
Gene: SCN8A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52200160G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806376G>C , CM000674.2:g.51806376G>C GRCh38
NC_000012.11:g.52200160G>C , CM000674.1:g.52200160G>C GRCh37
NC_000012.10:g.50486427G>C NCBI36
NG_021180.2:g.220141G>C
NG_021180.3:g.221419G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000354534.11:c.4890G>C MANE Plus Clinical ENSP00000346534.4:p.Leu1630=
ENST00000627620.5:c.4890G>C MANE Select ENSP00000487583.2:p.Leu1630=
ENST00000636945.2:c.2954G>C
ENST00000662684.1:c.4890G>C ENSP00000499636.1:p.Leu1630=
ENST00000668547.1:c.4767G>C ENSP00000499691.1:p.Leu1589=
ENST00000354534.10:c.4890G>C ENSP00000346534.4:p.Leu1630=
ENST00000355133.7:c.4767G>C ENSP00000347255.4:p.Leu1589=
ENST00000545061.5:c.4767G>C ENSP00000440360.1:p.Leu1589=
ENST00000599343.5:c.4923G>C ENSP00000476447.3:p.Leu1641=
ENST00000627620.2:c.4890G>C ENSP00000487583.1:p.Leu1630=
NM_001177984.2:c.4767G>C NP_001171455.1:p.Leu1589=
NM_014191.3:c.4890G>C NP_055006.1:p.Leu1630=
XM_006719556.2:c.4890G>C XP_006719619.1:p.Leu1630=
XM_011538650.1:c.4890G>C XP_011536952.1:p.Leu1630=
XM_011538651.1:c.4890G>C XP_011536953.1:p.Leu1630=
NM_001330260.1:c.4890G>C NP_001317189.1:p.Leu1630=
XM_006719556.4:c.4890G>C XP_006719619.1:p.Leu1630=
XM_011538651.3:c.4890G>C XP_011536953.1:p.Leu1630=
XM_017019794.2:c.4890G>C XP_016875283.1:p.Leu1630=
XM_017019795.2:c.4767G>C XP_016875284.1:p.Leu1589=
NM_001330260.2:c.4890G>C MANE Select NP_001317189.1:p.Leu1630=
NM_001369788.1:c.4767G>C NP_001356717.1:p.Leu1589=
NM_014191.4:c.4890G>C MANE Plus Clinical NP_055006.1:p.Leu1630=
NM_001177984.3:c.4767G>C NP_001171455.1:p.Leu1589=