Canonical Allele Identifier: CA236327685

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 2643004
• ClinVar RCV Id: RCV003391827
• dbSNP Id: rs929319837
• gnomAD v4: 12-51807047-G-A
• MyVariant Identifiers: chr12:g.52200831G>A (hg19) ; chr12:g.51807047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807047G>A , CM000674.2:g.51807047G>A	GRCh38
NC_000012.11:g.52200831G>A , CM000674.1:g.52200831G>A	GRCh37
NC_000012.10:g.50487098G>A	NCBI36
NG_021180.2:g.220812G>A
NG_021180.3:g.222090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.5561G>A MANE Plus Clinical	ENSP00000346534.4:p.Arg1854Gln
ENST00000627620.5:c.5561G>A MANE Select	ENSP00000487583.2:p.Arg1854Gln
ENST00000662684.1:c.5561G>A	ENSP00000499636.1:p.Arg1854Gln
ENST00000668547.1:c.5438G>A	ENSP00000499691.1:p.Arg1813Gln
ENST00000354534.10:c.5561G>A	ENSP00000346534.4:p.Arg1854Gln
ENST00000355133.7:c.5438G>A	ENSP00000347255.4:p.Arg1813Gln
ENST00000545061.5:c.5438G>A	ENSP00000440360.1:p.Arg1813Gln
ENST00000599343.5:c.5594G>A	ENSP00000476447.3:p.Arg1865Gln
ENST00000627620.2:c.5561G>A	ENSP00000487583.1:p.Arg1854Gln
NM_001177984.2:c.5438G>A	NP_001171455.1:p.Arg1813Gln
NM_014191.3:c.5561G>A	NP_055006.1:p.Arg1854Gln
XM_006719556.2:c.5561G>A	XP_006719619.1:p.Arg1854Gln
XM_011538650.1:c.5561G>A	XP_011536952.1:p.Arg1854Gln
XM_011538651.1:c.5561G>A	XP_011536953.1:p.Arg1854Gln
NM_001330260.1:c.5561G>A	NP_001317189.1:p.Arg1854Gln
XM_006719556.4:c.5561G>A	XP_006719619.1:p.Arg1854Gln
XM_011538651.3:c.5561G>A	XP_011536953.1:p.Arg1854Gln
XM_017019794.2:c.5561G>A	XP_016875283.1:p.Arg1854Gln
XM_017019795.2:c.5438G>A	XP_016875284.1:p.Arg1813Gln
NM_001330260.2:c.5561G>A MANE Select	NP_001317189.1:p.Arg1854Gln
NM_001369788.1:c.5438G>A	NP_001356717.1:p.Arg1813Gln
NM_014191.4:c.5561G>A MANE Plus Clinical	NP_055006.1:p.Arg1854Gln
NM_001177984.3:c.5438G>A	NP_001171455.1:p.Arg1813Gln