Canonical Allele Identifier: CA384904422

Gene: SCN8A

Linked Data

• MyVariant Identifiers: chr12:g.52180344G>C (hg19) ; chr12:g.51786560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51786560G>C , CM000674.2:g.51786560G>C	GRCh38
NC_000012.11:g.52180344G>C , CM000674.1:g.52180344G>C	GRCh37
NC_000012.10:g.50466611G>C	NCBI36
NG_021180.2:g.200325G>C
NG_021180.3:g.201603G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.3961G>C MANE Plus Clinical	ENSP00000346534.4:p.Val1321Leu
ENST00000548086.3:c.1755G>C
ENST00000627620.5:c.3961G>C MANE Select	ENSP00000487583.2:p.Val1321Leu
ENST00000636945.2:c.2025G>C
ENST00000662684.1:c.3961G>C	ENSP00000499636.1:p.Val1321Leu
ENST00000668547.1:c.3838G>C	ENSP00000499691.1:p.Val1280Leu
ENST00000354534.10:c.3961G>C	ENSP00000346534.4:p.Val1321Leu
ENST00000355133.7:c.3838G>C	ENSP00000347255.4:p.Val1280Leu
ENST00000545061.5:c.3838G>C	ENSP00000440360.1:p.Val1280Leu
ENST00000548086.1:n.212G>C
ENST00000599343.5:c.3994G>C	ENSP00000476447.3:p.Val1332Leu
ENST00000627620.2:c.3961G>C	ENSP00000487583.1:p.Val1321Leu
NM_001177984.2:c.3838G>C	NP_001171455.1:p.Val1280Leu
NM_014191.3:c.3961G>C	NP_055006.1:p.Val1321Leu
XM_006719556.2:c.3961G>C	XP_006719619.1:p.Val1321Leu
XM_011538650.1:c.3961G>C	XP_011536952.1:p.Val1321Leu
XM_011538651.1:c.3961G>C	XP_011536953.1:p.Val1321Leu
NM_001330260.1:c.3961G>C	NP_001317189.1:p.Val1321Leu
XM_006719556.4:c.3961G>C	XP_006719619.1:p.Val1321Leu
XM_011538651.3:c.3961G>C	XP_011536953.1:p.Val1321Leu
XM_017019794.2:c.3961G>C	XP_016875283.1:p.Val1321Leu
XM_017019795.2:c.3838G>C	XP_016875284.1:p.Val1280Leu
XM_017019796.1:c.*59G>C	XP_016875285.1:n.*59G>C
NM_001330260.2:c.3961G>C MANE Select	NP_001317189.1:p.Val1321Leu
NM_001369788.1:c.3838G>C	NP_001356717.1:p.Val1280Leu
NM_014191.4:c.3961G>C MANE Plus Clinical	NP_055006.1:p.Val1321Leu
NM_001177984.3:c.3838G>C	NP_001171455.1:p.Val1280Leu