Canonical Allele Identifier: CA384885235

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1358713
• ClinVar RCV Id: RCV001872075
• dbSNP Id: rs2138943375
• MyVariant Identifiers: chr12:g.52200575T>C (hg19) ; chr12:g.51806791T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806791T>C , CM000674.2:g.51806791T>C	GRCh38
NC_000012.11:g.52200575T>C , CM000674.1:g.52200575T>C	GRCh37
NC_000012.10:g.50486842T>C	NCBI36
NG_021180.2:g.220556T>C
NG_021180.3:g.221834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5305T>C MANE Plus Clinical	ENSP00000346534.4:p.Phe1769Leu
ENST00000627620.5:c.5305T>C MANE Select	ENSP00000487583.2:p.Phe1769Leu
ENST00000636945.2:c.3369T>C
ENST00000662684.1:c.5305T>C	ENSP00000499636.1:p.Phe1769Leu
ENST00000668547.1:c.5182T>C	ENSP00000499691.1:p.Phe1728Leu
ENST00000354534.10:c.5305T>C	ENSP00000346534.4:p.Phe1769Leu
ENST00000355133.7:c.5182T>C	ENSP00000347255.4:p.Phe1728Leu
ENST00000545061.5:c.5182T>C	ENSP00000440360.1:p.Phe1728Leu
ENST00000599343.5:c.5338T>C	ENSP00000476447.3:p.Phe1780Leu
ENST00000627620.2:c.5305T>C	ENSP00000487583.1:p.Phe1769Leu
NM_001177984.2:c.5182T>C	NP_001171455.1:p.Phe1728Leu
NM_014191.3:c.5305T>C	NP_055006.1:p.Phe1769Leu
XM_006719556.2:c.5305T>C	XP_006719619.1:p.Phe1769Leu
XM_011538650.1:c.5305T>C	XP_011536952.1:p.Phe1769Leu
XM_011538651.1:c.5305T>C	XP_011536953.1:p.Phe1769Leu
NM_001330260.1:c.5305T>C	NP_001317189.1:p.Phe1769Leu
XM_006719556.4:c.5305T>C	XP_006719619.1:p.Phe1769Leu
XM_011538651.3:c.5305T>C	XP_011536953.1:p.Phe1769Leu
XM_017019794.2:c.5305T>C	XP_016875283.1:p.Phe1769Leu
XM_017019795.2:c.5182T>C	XP_016875284.1:p.Phe1728Leu
NM_001330260.2:c.5305T>C MANE Select	NP_001317189.1:p.Phe1769Leu
NM_001369788.1:c.5182T>C	NP_001356717.1:p.Phe1728Leu
NM_014191.4:c.5305T>C MANE Plus Clinical	NP_055006.1:p.Phe1769Leu
NM_001177984.3:c.5182T>C	NP_001171455.1:p.Phe1728Leu