Canonical Allele Identifier: CA242781

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 196029
• ClinVar RCV Id: RCV000176750 ; RCV002516713
• dbSNP Id: rs794727442
• MyVariant Identifiers: chr12:g.52200422C>T (hg19) ; chr12:g.51806638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806638C>T , CM000674.2:g.51806638C>T	GRCh38
NC_000012.11:g.52200422C>T , CM000674.1:g.52200422C>T	GRCh37
NC_000012.10:g.50486689C>T	NCBI36
NG_021180.2:g.220403C>T
NG_021180.3:g.221681C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5152C>T MANE Plus Clinical	ENSP00000346534.4:p.Pro1718Ser
ENST00000627620.5:c.5152C>T MANE Select	ENSP00000487583.2:p.Pro1718Ser
ENST00000636945.2:c.3216C>T
ENST00000662684.1:c.5152C>T	ENSP00000499636.1:p.Pro1718Ser
ENST00000668547.1:c.5029C>T	ENSP00000499691.1:p.Pro1677Ser
ENST00000354534.10:c.5152C>T	ENSP00000346534.4:p.Pro1718Ser
ENST00000355133.7:c.5029C>T	ENSP00000347255.4:p.Pro1677Ser
ENST00000545061.5:c.5029C>T	ENSP00000440360.1:p.Pro1677Ser
ENST00000599343.5:c.5185C>T	ENSP00000476447.3:p.Pro1729Ser
ENST00000627620.2:c.5152C>T	ENSP00000487583.1:p.Pro1718Ser
NM_001177984.2:c.5029C>T	NP_001171455.1:p.Pro1677Ser
NM_014191.3:c.5152C>T	NP_055006.1:p.Pro1718Ser
XM_006719556.2:c.5152C>T	XP_006719619.1:p.Pro1718Ser
XM_011538650.1:c.5152C>T	XP_011536952.1:p.Pro1718Ser
XM_011538651.1:c.5152C>T	XP_011536953.1:p.Pro1718Ser
NM_001330260.1:c.5152C>T	NP_001317189.1:p.Pro1718Ser
XM_006719556.4:c.5152C>T	XP_006719619.1:p.Pro1718Ser
XM_011538651.3:c.5152C>T	XP_011536953.1:p.Pro1718Ser
XM_017019794.2:c.5152C>T	XP_016875283.1:p.Pro1718Ser
XM_017019795.2:c.5029C>T	XP_016875284.1:p.Pro1677Ser
NM_001330260.2:c.5152C>T MANE Select	NP_001317189.1:p.Pro1718Ser
NM_001369788.1:c.5029C>T	NP_001356717.1:p.Pro1677Ser
NM_014191.4:c.5152C>T MANE Plus Clinical	NP_055006.1:p.Pro1718Ser
NM_001177984.3:c.5029C>T	NP_001171455.1:p.Pro1677Ser