Canonical Allele Identifier: CA16044237
Gene: SCN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 375404
ClinVar RCV Id: RCV000416448
dbSNP Id: rs1057519457

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35033599A>T , CM000681.2:g.35033599A>T GRCh38
NC_000019.9:g.35524503A>T , CM000681.1:g.35524503A>T GRCh37
NC_000019.8:g.40216343A>T NCBI36
NG_013359.1:g.7912A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415950.5:c.308A>T ENSP00000396915.2:p.Asp103Val
ENST00000262631.11:c.308A>T MANE Select ENSP00000262631.3:p.Asp103Val
ENST00000415950.4:c.308A>T ENSP00000396915.2:p.Asp103Val
ENST00000596348.2:c.209A>T ENSP00000492247.1:p.Asp70Val
ENST00000638536.1:c.308A>T ENSP00000492022.1:p.Asp103Val
ENST00000640135.1:c.209A>T ENSP00000492655.1:p.Asp70Val
ENST00000675741.1:c.209A>T ENSP00000502395.1:p.Asp70Val
ENST00000676410.1:c.209A>T ENSP00000502717.1:p.Asp70Val
ENST00000262631.9:c.308A>T ENSP00000262631.3:p.Asp103Val
ENST00000415950.3:c.308A>T ENSP00000396915.2:p.Asp103Val
ENST00000595652.5:c.208-113A>T ENSP00000468848.1:n.208-113A>T
ENST00000596348.1:n.317A>T
NM_001037.4:c.308A>T NP_001028.1:p.Asp103Val
NM_199037.3:c.308A>T NP_950238.1:p.Asp103Val
XM_005259144.1:c.209A>T XP_005259201.1:p.Asp70Val
NM_001321605.1:c.209A>T NP_001308534.1:p.Asp70Val
NM_199037.4:c.308A>T NP_950238.1:p.Asp103Val
NM_001037.5:c.308A>T MANE Select NP_001028.1:p.Asp103Val
NM_001321605.2:c.209A>T NP_001308534.1:p.Asp70Val
NM_199037.5:c.308A>T NP_950238.1:p.Asp103Val