Canonical Allele Identifier: CA658799177
Community Standard Title: NM_001037.5(SCN1B):c.-41C>G
Gene: SCN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35030780C>G , CM000681.2:g.35030780C>G GRCh38
NC_000019.9:g.35521684C>G , CM000681.1:g.35521684C>G GRCh37
NC_000019.8:g.40213524C>G NCBI36
NG_013359.1:g.5093C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001037.5:c.-41C>G MANE Select NP_001028.1:n.-41C>G
ENST00000262631.11:c.-41C>G MANE Select ENSP00000262631.3:n.-41C>G
NM_001037.4:c.-41C>G NP_001028.1:n.-41C>G
NM_199037.3:c.-41C>G NP_950238.1:n.-41C>G
NM_199037.4:c.-41C>G NP_950238.1:n.-41C>G
NM_199037.5:c.-41C>G NP_950238.1:n.-41C>G
ENST00000262631.9:c.-41C>G ENSP00000262631.3:n.-41C>G
ENST00000415950.4:c.-41C>G ENSP00000396915.2:n.-41C>G
ENST00000415950.5:c.-41C>G ENSP00000396915.2:n.-41C>G
ENST00000595652.5:c.-41C>G ENSP00000468848.1:n.-41C>G
ENST00000638536.1:c.-41C>G ENSP00000492022.1:n.-41C>G