Canonical Allele Identifier: CA2333469614
Community Standard Title: NM_001037.5(SCN1B):c.449-1G=
Gene: SCN1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35039116G= , CM000681.2:g.35039116G= GRCh38
NC_000019.9:g.35530020G= , CM000681.1:g.35530020G= GRCh37
NC_000019.8:g.40221860G= NCBI36
NG_013359.1:g.13429G=

Transcript Alleles

HGVS Amino-acid Change
NM_001037.5:c.449-1G= MANE Select NP_001028.1:n.449-1G=
ENST00000262631.11:c.449-1G= MANE Select ENSP00000262631.3:n.449-1G=
NM_001037.4:c.449-1G= NP_001028.1:n.449-1G=
NM_001321605.1:c.350-1G= NP_001308534.1:n.350-1G=
NM_001321605.2:c.350-1G= NP_001308534.1:n.350-1G=
ENST00000262631.9:c.449-1G= ENSP00000262631.3:n.449-1G=
ENST00000595652.5:c.236-1G= ENSP00000468848.1:n.236-1G=
ENST00000596348.1:n.458-1G=
ENST00000596348.2:c.350-1G= ENSP00000492247.1:n.350-1G=
ENST00000602150.1:n.2218G=
ENST00000602150.2:n.2218G=
ENST00000638536.1:c.449-1G= ENSP00000492022.1:n.449-1G=
ENST00000639260.1:n.1261G=
ENST00000675741.1:c.476-1G= ENSP00000502395.1:n.476-1G=
ENST00000676410.1:c.*167-1G= ENSP00000502717.1:n.*167-1G=
XM_005259144.1:c.350-1G= XP_005259201.1:n.350-1G=