Canonical Allele Identifier: CA405328331
Gene: SCN1B HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35032677A>G , CM000681.2:g.35032677A>G GRCh38
NC_000019.9:g.35523581A>G , CM000681.1:g.35523581A>G GRCh37
NC_000019.8:g.40215421A>G NCBI36
NG_013359.1:g.6990A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415950.5:c.190A>G ENSP00000396915.2:p.Thr64Ala
ENST00000262631.11:c.190A>G MANE Select ENSP00000262631.3:p.Thr64Ala
ENST00000415950.4:c.190A>G ENSP00000396915.2:p.Thr64Ala
ENST00000596348.2:c.91A>G ENSP00000492247.1:p.Thr31Ala
ENST00000638536.1:c.190A>G ENSP00000492022.1:p.Thr64Ala
ENST00000640135.1:c.91A>G ENSP00000492655.1:p.Thr31Ala
ENST00000675741.1:c.91A>G ENSP00000502395.1:p.Thr31Ala
ENST00000676410.1:c.91A>G ENSP00000502717.1:p.Thr31Ala
ENST00000262631.9:c.190A>G ENSP00000262631.3:p.Thr64Ala
ENST00000415950.3:c.190A>G ENSP00000396915.2:p.Thr64Ala
ENST00000595652.5:c.190A>G ENSP00000468848.1:p.Thr64Ala
ENST00000596348.1:n.199A>G
NM_001037.4:c.190A>G NP_001028.1:p.Thr64Ala
NM_199037.3:c.190A>G NP_950238.1:p.Thr64Ala
XM_005259144.1:c.91A>G XP_005259201.1:p.Thr31Ala
NM_001321605.1:c.91A>G NP_001308534.1:p.Thr31Ala
NM_199037.4:c.190A>G NP_950238.1:p.Thr64Ala
NM_001037.5:c.190A>G MANE Select NP_001028.1:p.Thr64Ala
NM_001321605.2:c.91A>G NP_001308534.1:p.Thr31Ala
NM_199037.5:c.190A>G NP_950238.1:p.Thr64Ala