Canonical Allele Identifier: CA229983987
Gene: SCN3B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.123642502G>T
GRCh37 chr11:g.123513210G>T
Revel Score:
ENST00000392770 0.115
ENST00000299333 (MANE Select) 0.115
ENST00000530277 0.115
ENST00000527836 0.115
gnomAD v2:
11:123513210 G / T
gnomAD v4:
chr11-123642502-G-T
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
ClinVar RCV:
RCV001797221
RCV004040854
ClinVar Variation:
1328589
dbSNP:
587777556
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123642502G>T , CM000673.2:g.123642502G>T GRCh38
NC_000011.9:g.123513210G>T , CM000673.1:g.123513210G>T GRCh37
NC_000011.8:g.123018420G>T NCBI36
NG_016283.1:g.17106C>A , LRG_421:g.17106C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299333.8:c.389C>A MANE Select ENSP00000299333.3:p.Ala130Glu
ENST00000657123.1:c.389C>A ENSP00000499439.1:p.Ala130Glu
ENST00000657191.1:c.389C>A ENSP00000499755.1:p.Ala130Glu
ENST00000659826.1:c.85C>A
ENST00000667790.1:c.389C>A ENSP00000499234.1:p.Ala130Glu
ENST00000299333.7:c.389C>A ENSP00000299333.3:p.Ala130Glu
ENST00000392770.6:c.389C>A ENSP00000376523.2:p.Ala130Glu
ENST00000527836.5:c.389C>A ENSP00000435554.1:p.Ala130Glu
ENST00000530277.5:c.389C>A ENSP00000432785.1:p.Ala130Glu
NM_001040151.1:c.389C>A NP_001035241.1:p.Ala130Glu
NM_018400.3:c.389C>A , LRG_421t1:c.389C>A NP_060870.1:p.Ala130Glu
XM_011542897.1:c.389C>A XP_011541199.1:p.Ala130Glu
XR_947858.1:n.796C>A
XM_011542897.2:c.389C>A XP_011541199.1:p.Ala130Glu
NM_001040151.2:c.389C>A MANE Select NP_001035241.1:p.Ala130Glu
NM_018400.4:c.389C>A NP_060870.1:p.Ala130Glu
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