Canonical Allele Identifier: CA6333986

Gene: SCN3B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123638187C>T , CM000673.2:g.123638187C>T	GRCh38
NC_000011.9:g.123508895C>T , CM000673.1:g.123508895C>T	GRCh37
NC_000011.8:g.123014105C>T	NCBI36
NG_016283.1:g.21421G>A , LRG_421:g.21421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.583G>A MANE Select	ENSP00000299333.3:p.Ala195Thr
ENST00000655686.1:n.426G>A
ENST00000657123.1:c.583G>A	ENSP00000499439.1:p.Ala195Thr
ENST00000657191.1:c.583G>A	ENSP00000499755.1:p.Ala195Thr
ENST00000659826.1:c.332G>A
ENST00000667790.1:c.*564G>A	ENSP00000499234.1:n.*564G>A
ENST00000299333.7:c.583G>A	ENSP00000299333.3:p.Ala195Thr
ENST00000392770.6:c.583G>A	ENSP00000376523.2:p.Ala195Thr
ENST00000527125.1:n.2938G>A
ENST00000530277.5:c.583G>A	ENSP00000432785.1:p.Ala195Thr
NM_001040151.1:c.583G>A	NP_001035241.1:p.Ala195Thr
NM_018400.3:c.583G>A , LRG_421t1:c.583G>A	NP_060870.1:p.Ala195Thr
XM_011542897.1:c.583G>A	XP_011541199.1:p.Ala195Thr
XR_947858.1:n.990G>A
XM_011542897.2:c.583G>A	XP_011541199.1:p.Ala195Thr
NM_001040151.2:c.583G>A MANE Select	NP_001035241.1:p.Ala195Thr
NM_018400.4:c.583G>A	NP_060870.1:p.Ala195Thr