Canonical Allele Identifier: CA385224785

Gene: SCN8A

Linked Data

• MyVariant Identifiers: chr12:g.52082853G>T (hg19) ; chr12:g.51689069G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51689069G>T , CM000674.2:g.51689069G>T	GRCh38
NC_000012.11:g.52082853G>T , CM000674.1:g.52082853G>T	GRCh37
NC_000012.10:g.50369120G>T	NCBI36
NG_021180.2:g.102834G>T
NG_021180.3:g.104112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703687.1:n.2693G>T
ENST00000354534.11:c.706+220G>T MANE Plus Clinical	ENSP00000346534.4:n.706+220G>T
ENST00000627620.5:c.679G>T MANE Select	ENSP00000487583.2:p.Ala227Ser
ENST00000637709.2:c.*194G>T	ENSP00000490470.1:n.*194G>T
ENST00000638820.1:c.679G>T	ENSP00000492157.1:p.Ala227Ser
ENST00000662684.1:c.679G>T	ENSP00000499636.1:p.Ala227Ser
ENST00000667214.1:c.706+220G>T	ENSP00000499724.1:n.706+220G>T
ENST00000668547.1:c.679G>T	ENSP00000499691.1:p.Ala227Ser
ENST00000354534.10:c.706+220G>T	ENSP00000346534.4:n.706+220G>T
ENST00000355133.7:c.706+220G>T	ENSP00000347255.4:n.706+220G>T
ENST00000545061.5:c.706+220G>T	ENSP00000440360.1:n.706+220G>T
ENST00000550891.4:n.807G>T
ENST00000551216.2:c.229G>T	ENSP00000447567.2:p.Ala77Ser
ENST00000599343.5:c.706+220G>T	ENSP00000476447.3:n.706+220G>T
ENST00000627620.2:c.679G>T	ENSP00000487583.1:p.Ala227Ser
NM_001177984.2:c.706+220G>T	NP_001171455.1:n.706+220G>T
NM_014191.3:c.706+220G>T	NP_055006.1:n.706+220G>T
XM_006719556.2:c.679G>T	XP_006719619.1:p.Ala227Ser
XM_011538650.1:c.679G>T	XP_011536952.1:p.Ala227Ser
XM_011538651.1:c.679G>T	XP_011536953.1:p.Ala227Ser
NM_001330260.1:c.679G>T	NP_001317189.1:p.Ala227Ser
XM_006719556.4:c.679G>T	XP_006719619.1:p.Ala227Ser
XM_011538651.3:c.679G>T	XP_011536953.1:p.Ala227Ser
XM_017019794.2:c.706+220G>T	XP_016875283.1:n.706+220G>T
XM_017019795.2:c.679G>T	XP_016875284.1:p.Ala227Ser
XM_017019796.1:c.679G>T	XP_016875285.1:p.Ala227Ser
NM_001330260.2:c.679G>T MANE Select	NP_001317189.1:p.Ala227Ser
NM_001369788.1:c.679G>T	NP_001356717.1:p.Ala227Ser
NM_014191.4:c.706+220G>T MANE Plus Clinical	NP_055006.1:n.706+220G>T
NM_001177984.3:c.706+220G>T	NP_001171455.1:n.706+220G>T