Canonical Allele Identifier: CA2573148768

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 1616597
• ClinVar RCV Id: RCV002074963
• dbSNP Id: rs2138857968
• gnomAD v4: 12-51762691-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51762691T>C , CM000674.2:g.51762691T>C	GRCh38
NC_000012.11:g.52156475T>C , CM000674.1:g.52156475T>C	GRCh37
NC_000012.10:g.50442742T>C	NCBI36
NG_021180.2:g.176456T>C
NG_021180.3:g.177734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2544+15T>C MANE Plus Clinical	ENSP00000346534.4:n.2544+15T>C
ENST00000548086.3:c.391+15T>C
ENST00000627620.5:c.2544+15T>C MANE Select	ENSP00000487583.2:n.2544+15T>C
ENST00000636945.2:c.548+15T>C
ENST00000662684.1:c.2544+15T>C	ENSP00000499636.1:n.2544+15T>C
ENST00000668547.1:c.2544+15T>C	ENSP00000499691.1:n.2544+15T>C
ENST00000354534.10:c.2544+15T>C	ENSP00000346534.4:n.2544+15T>C
ENST00000355133.7:c.2544+15T>C	ENSP00000347255.4:n.2544+15T>C
ENST00000545061.5:c.2544+15T>C	ENSP00000440360.1:n.2544+15T>C
ENST00000550891.4:n.2672+15T>C
ENST00000599343.5:c.2577+15T>C	ENSP00000476447.3:n.2577+15T>C
ENST00000627620.2:c.2544+15T>C	ENSP00000487583.1:n.2544+15T>C
NM_001177984.2:c.2544+15T>C	NP_001171455.1:n.2544+15T>C
NM_014191.3:c.2544+15T>C	NP_055006.1:n.2544+15T>C
XM_006719556.2:c.2544+15T>C	XP_006719619.1:n.2544+15T>C
XM_011538650.1:c.2544+15T>C	XP_011536952.1:n.2544+15T>C
XM_011538651.1:c.2544+15T>C	XP_011536953.1:n.2544+15T>C
NM_001330260.1:c.2544+15T>C	NP_001317189.1:n.2544+15T>C
XM_006719556.4:c.2544+15T>C	XP_006719619.1:n.2544+15T>C
XM_011538651.3:c.2544+15T>C	XP_011536953.1:n.2544+15T>C
XM_017019794.2:c.2544+15T>C	XP_016875283.1:n.2544+15T>C
XM_017019795.2:c.2544+15T>C	XP_016875284.1:n.2544+15T>C
XM_017019796.1:c.2544+15T>C	XP_016875285.1:n.2544+15T>C
NM_001330260.2:c.2544+15T>C MANE Select	NP_001317189.1:n.2544+15T>C
NM_001369788.1:c.2544+15T>C	NP_001356717.1:n.2544+15T>C
NM_014191.4:c.2544+15T>C MANE Plus Clinical	NP_055006.1:n.2544+15T>C
NM_001177984.3:c.2544+15T>C	NP_001171455.1:n.2544+15T>C