Canonical Allele Identifier: CA6571801

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 696799
• ClinVar RCV Id: RCV000863345 ; RCV001557188 ; RCV003975394
• dbSNP Id: rs776485215
• ExAC: 12:52183196 G / A
• gnomAD v2: 12-52183196-G-A
• gnomAD v3: 12-51789412-G-A
• gnomAD v4: 12-51789412-G-A
• MyVariant Identifiers: chr12:g.52183196G>A (hg19) ; chr12:g.51789412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51789412G>A , CM000674.2:g.51789412G>A	GRCh38
NC_000012.11:g.52183196G>A , CM000674.1:g.52183196G>A	GRCh37
NC_000012.10:g.50469463G>A	NCBI36
NG_021180.2:g.203177G>A
NG_021180.3:g.204455G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4413G>A MANE Plus Clinical	ENSP00000346534.4:p.Lys1471=
ENST00000627620.5:c.4413G>A MANE Select	ENSP00000487583.2:p.Lys1471=
ENST00000636945.2:c.2477G>A
ENST00000662684.1:c.4413G>A	ENSP00000499636.1:p.Lys1471=
ENST00000668547.1:c.4290G>A	ENSP00000499691.1:p.Lys1430=
ENST00000354534.10:c.4413G>A	ENSP00000346534.4:p.Lys1471=
ENST00000355133.7:c.4290G>A	ENSP00000347255.4:p.Lys1430=
ENST00000545061.5:c.4290G>A	ENSP00000440360.1:p.Lys1430=
ENST00000599343.5:c.4446G>A	ENSP00000476447.3:p.Lys1482=
ENST00000627620.2:c.4413G>A	ENSP00000487583.1:p.Lys1471=
NM_001177984.2:c.4290G>A	NP_001171455.1:p.Lys1430=
NM_014191.3:c.4413G>A	NP_055006.1:p.Lys1471=
XM_006719556.2:c.4413G>A	XP_006719619.1:p.Lys1471=
XM_011538650.1:c.4413G>A	XP_011536952.1:p.Lys1471=
XM_011538651.1:c.4413G>A	XP_011536953.1:p.Lys1471=
NM_001330260.1:c.4413G>A	NP_001317189.1:p.Lys1471=
XM_006719556.4:c.4413G>A	XP_006719619.1:p.Lys1471=
XM_011538651.3:c.4413G>A	XP_011536953.1:p.Lys1471=
XM_017019794.2:c.4413G>A	XP_016875283.1:p.Lys1471=
XM_017019795.2:c.4290G>A	XP_016875284.1:p.Lys1430=
NM_001330260.2:c.4413G>A MANE Select	NP_001317189.1:p.Lys1471=
NM_001369788.1:c.4290G>A	NP_001356717.1:p.Lys1430=
NM_014191.4:c.4413G>A MANE Plus Clinical	NP_055006.1:p.Lys1471=
NM_001177984.3:c.4290G>A	NP_001171455.1:p.Lys1430=