Canonical Allele Identifier: CA318321

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 207142
• ClinVar RCV Id: RCV000514951 ; RCV000703972 ; RCV002321764 ; RCV001838987 ; RCV004537587
• dbSNP Id: rs202006479
• ExAC: 12:52162895 G / A
• gnomAD v2: 12-52162895-G-A
• gnomAD v3: 12-51769111-G-A
• gnomAD v4: 12-51769111-G-A
• MyVariant Identifiers: chr12:g.52162895G>A (hg19) ; chr12:g.51769111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51769111G>A , CM000674.2:g.51769111G>A	GRCh38
NC_000012.11:g.52162895G>A , CM000674.1:g.52162895G>A	GRCh37
NC_000012.10:g.50449162G>A	NCBI36
NG_021180.2:g.182876G>A
NG_021180.3:g.184154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.3148G>A MANE Plus Clinical	ENSP00000346534.4:p.Gly1050Ser
ENST00000548086.3:c.995G>A
ENST00000627620.5:c.3148G>A MANE Select	ENSP00000487583.2:p.Gly1050Ser
ENST00000636945.2:c.1212G>A
ENST00000662684.1:c.3148G>A	ENSP00000499636.1:p.Gly1050Ser
ENST00000668547.1:c.3148G>A	ENSP00000499691.1:p.Gly1050Ser
ENST00000354534.10:c.3148G>A	ENSP00000346534.4:p.Gly1050Ser
ENST00000355133.7:c.3148G>A	ENSP00000347255.4:p.Gly1050Ser
ENST00000545061.5:c.3148G>A	ENSP00000440360.1:p.Gly1050Ser
ENST00000599343.5:c.3181G>A	ENSP00000476447.3:p.Gly1061Ser
ENST00000627620.2:c.3148G>A	ENSP00000487583.1:p.Gly1050Ser
ENST00000627665.1:n.140G>A
NM_001177984.2:c.3148G>A	NP_001171455.1:p.Gly1050Ser
NM_014191.3:c.3148G>A	NP_055006.1:p.Gly1050Ser
XM_006719556.2:c.3148G>A	XP_006719619.1:p.Gly1050Ser
XM_011538650.1:c.3148G>A	XP_011536952.1:p.Gly1050Ser
XM_011538651.1:c.3148G>A	XP_011536953.1:p.Gly1050Ser
NM_001330260.1:c.3148G>A	NP_001317189.1:p.Gly1050Ser
XM_006719556.4:c.3148G>A	XP_006719619.1:p.Gly1050Ser
XM_011538651.3:c.3148G>A	XP_011536953.1:p.Gly1050Ser
XM_017019794.2:c.3148G>A	XP_016875283.1:p.Gly1050Ser
XM_017019795.2:c.3148G>A	XP_016875284.1:p.Gly1050Ser
XM_017019796.1:c.3148G>A	XP_016875285.1:p.Gly1050Ser
NM_001330260.2:c.3148G>A MANE Select	NP_001317189.1:p.Gly1050Ser
NM_001369788.1:c.3148G>A	NP_001356717.1:p.Gly1050Ser
NM_014191.4:c.3148G>A MANE Plus Clinical	NP_055006.1:p.Gly1050Ser
NM_001177984.3:c.3148G>A	NP_001171455.1:p.Gly1050Ser