Canonical Allele Identifier: CA236327499

Gene: SCN8A

Linked Data

• ClinVar Variation Id: 698487
• ClinVar RCV Id: RCV000865912 ; RCV001597226
• dbSNP Id: rs1031935135
• gnomAD v3: 12-51806653-C-T
• gnomAD v4: 12-51806653-C-T
• MyVariant Identifiers: chr12:g.52200437C>T (hg19) ; chr12:g.51806653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806653C>T , CM000674.2:g.51806653C>T	GRCh38
NC_000012.11:g.52200437C>T , CM000674.1:g.52200437C>T	GRCh37
NC_000012.10:g.50486704C>T	NCBI36
NG_021180.2:g.220418C>T
NG_021180.3:g.221696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5167C>T MANE Plus Clinical	ENSP00000346534.4:p.Leu1723=
ENST00000627620.5:c.5167C>T MANE Select	ENSP00000487583.2:p.Leu1723=
ENST00000636945.2:c.3231C>T
ENST00000662684.1:c.5167C>T	ENSP00000499636.1:p.Leu1723=
ENST00000668547.1:c.5044C>T	ENSP00000499691.1:p.Leu1682=
ENST00000354534.10:c.5167C>T	ENSP00000346534.4:p.Leu1723=
ENST00000355133.7:c.5044C>T	ENSP00000347255.4:p.Leu1682=
ENST00000545061.5:c.5044C>T	ENSP00000440360.1:p.Leu1682=
ENST00000599343.5:c.5200C>T	ENSP00000476447.3:p.Leu1734=
ENST00000627620.2:c.5167C>T	ENSP00000487583.1:p.Leu1723=
NM_001177984.2:c.5044C>T	NP_001171455.1:p.Leu1682=
NM_014191.3:c.5167C>T	NP_055006.1:p.Leu1723=
XM_006719556.2:c.5167C>T	XP_006719619.1:p.Leu1723=
XM_011538650.1:c.5167C>T	XP_011536952.1:p.Leu1723=
XM_011538651.1:c.5167C>T	XP_011536953.1:p.Leu1723=
NM_001330260.1:c.5167C>T	NP_001317189.1:p.Leu1723=
XM_006719556.4:c.5167C>T	XP_006719619.1:p.Leu1723=
XM_011538651.3:c.5167C>T	XP_011536953.1:p.Leu1723=
XM_017019794.2:c.5167C>T	XP_016875283.1:p.Leu1723=
XM_017019795.2:c.5044C>T	XP_016875284.1:p.Leu1682=
NM_001330260.2:c.5167C>T MANE Select	NP_001317189.1:p.Leu1723=
NM_001369788.1:c.5044C>T	NP_001356717.1:p.Leu1682=
NM_014191.4:c.5167C>T MANE Plus Clinical	NP_055006.1:p.Leu1723=
NM_001177984.3:c.5044C>T	NP_001171455.1:p.Leu1682=