Canonical Allele Identifier: CA163437
Gene: SCN3B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.123642502G>A
GRCh37 chr11:g.123513210G>A
Revel Score:
ENST00000392770 0.239
ENST00000299333 (MANE Select) 0.239
ENST00000530277 0.239
ENST00000527836 0.239
gnomAD v2:
11:123513210 G / A
gnomAD v3:
11:123642502 G / A
gnomAD v4:
chr11-123642502-G-A
Joint Max Group AF 0.00001425 (SAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001583 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000299333.8:c.389C>T MANE Select ENSP00000299333.3:p.Ala130Val
ENST00000657123.1:c.389C>T ENSP00000499439.1:p.Ala130Val
ENST00000657191.1:c.389C>T ENSP00000499755.1:p.Ala130Val
ENST00000659826.1:c.85C>T
ENST00000667790.1:c.389C>T ENSP00000499234.1:p.Ala130Val
ENST00000299333.7:c.389C>T ENSP00000299333.3:p.Ala130Val
ENST00000392770.6:c.389C>T ENSP00000376523.2:p.Ala130Val
ENST00000527836.5:c.389C>T ENSP00000435554.1:p.Ala130Val
ENST00000530277.5:c.389C>T ENSP00000432785.1:p.Ala130Val
NM_001040151.1:c.389C>T NP_001035241.1:p.Ala130Val
NM_018400.3:c.389C>T , LRG_421t1:c.389C>T NP_060870.1:p.Ala130Val
XM_011542897.1:c.389C>T XP_011541199.1:p.Ala130Val
XR_947858.1:n.796C>T
XM_011542897.2:c.389C>T XP_011541199.1:p.Ala130Val
NM_001040151.2:c.389C>T MANE Select NP_001035241.1:p.Ala130Val
NM_018400.4:c.389C>T NP_060870.1:p.Ala130Val
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