Canonical Allele Identifier: CA6571975

Gene: SCN8A

Linked Data

• dbSNP Id: rs770947079
• ExAC: 12:52201235 T / C
• gnomAD v2: 12-52201235-T-C
• gnomAD v3: 12-51807451-T-C
• gnomAD v4: 12-51807451-T-C
• MyVariant Identifiers: chr12:g.52201235T>C (hg19) ; chr12:g.51807451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807451T>C , CM000674.2:g.51807451T>C	GRCh38
NC_000012.11:g.52201235T>C , CM000674.1:g.52201235T>C	GRCh37
NC_000012.10:g.50487502T>C	NCBI36
NG_021180.2:g.221216T>C
NG_021180.3:g.222494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*22T>C MANE Plus Clinical	ENSP00000346534.4:n.*22T>C
ENST00000627620.5:c.*22T>C MANE Select	ENSP00000487583.2:n.*22T>C
ENST00000662684.1:c.*22T>C	ENSP00000499636.1:n.*22T>C
ENST00000668547.1:c.*22T>C	ENSP00000499691.1:n.*22T>C
ENST00000354534.10:c.*22T>C	ENSP00000346534.4:n.*22T>C
ENST00000545061.5:c.*22T>C	ENSP00000440360.1:n.*22T>C
NM_001177984.2:c.*22T>C	NP_001171455.1:n.*22T>C
NM_014191.3:c.*22T>C	NP_055006.1:n.*22T>C
XM_006719556.2:c.*22T>C	XP_006719619.1:n.*22T>C
XM_011538650.1:c.*22T>C	XP_011536952.1:n.*22T>C
XM_011538651.1:c.*22T>C	XP_011536953.1:n.*22T>C
NM_001330260.1:c.*22T>C	NP_001317189.1:n.*22T>C
XM_006719556.4:c.*22T>C	XP_006719619.1:n.*22T>C
XM_011538651.3:c.*22T>C	XP_011536953.1:n.*22T>C
XM_017019794.2:c.*22T>C	XP_016875283.1:n.*22T>C
XM_017019795.2:c.*22T>C	XP_016875284.1:n.*22T>C
NM_001330260.2:c.*22T>C MANE Select	NP_001317189.1:n.*22T>C
NM_001369788.1:c.*22T>C	NP_001356717.1:n.*22T>C
NM_014191.4:c.*22T>C MANE Plus Clinical	NP_055006.1:n.*22T>C
NM_001177984.3:c.*22T>C	NP_001171455.1:n.*22T>C