Canonical Allele Identifier: CA318280

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51790416T>C , CM000674.2:g.51790416T>C	GRCh38
NC_000012.11:g.52184200T>C , CM000674.1:g.52184200T>C	GRCh37
NC_000012.10:g.50470467T>C	NCBI36
NG_021180.2:g.204181T>C
NG_021180.3:g.205459T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001330260.2:c.4438T>C MANE Select	NP_001317189.1:p.Phe1480Leu
ENST00000627620.5:c.4438T>C MANE Select	ENSP00000487583.2:p.Phe1480Leu
NM_014191.4:c.4438T>C MANE Plus Clinical	NP_055006.1:p.Phe1480Leu
ENST00000354534.11:c.4438T>C MANE Plus Clinical	ENSP00000346534.4:p.Phe1480Leu
NM_001177984.2:c.4315T>C	NP_001171455.1:p.Phe1439Leu
NM_001177984.3:c.4315T>C	NP_001171455.1:p.Phe1439Leu
NM_001330260.1:c.4438T>C	NP_001317189.1:p.Phe1480Leu
NM_001369788.1:c.4315T>C	NP_001356717.1:p.Phe1439Leu
NM_014191.3:c.4438T>C	NP_055006.1:p.Phe1480Leu
ENST00000354534.10:c.4438T>C	ENSP00000346534.4:p.Phe1480Leu
ENST00000355133.7:c.4315T>C	ENSP00000347255.4:p.Phe1439Leu
ENST00000545061.5:c.4315T>C	ENSP00000440360.1:p.Phe1439Leu
ENST00000599343.5:c.4471T>C	ENSP00000476447.3:p.Phe1491Leu
ENST00000627620.2:c.4438T>C	ENSP00000487583.1:p.Phe1480Leu
ENST00000636945.2:c.2502T>C
ENST00000662684.1:c.4438T>C	ENSP00000499636.1:p.Phe1480Leu
ENST00000668547.1:c.4315T>C	ENSP00000499691.1:p.Phe1439Leu
XM_006719556.2:c.4438T>C	XP_006719619.1:p.Phe1480Leu
XM_006719556.4:c.4438T>C	XP_006719619.1:p.Phe1480Leu
XM_011538650.1:c.4438T>C	XP_011536952.1:p.Phe1480Leu
XM_011538651.1:c.4438T>C	XP_011536953.1:p.Phe1480Leu
XM_011538651.3:c.4438T>C	XP_011536953.1:p.Phe1480Leu
XM_017019794.2:c.4438T>C	XP_016875283.1:p.Phe1480Leu
XM_017019795.2:c.4315T>C	XP_016875284.1:p.Phe1439Leu