Canonical Allele Identifier: CA2333466415
Gene: SCN1B HGNC NCBI

Linked Data

dbSNP Id: rs2064218298

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35032228dup , CM000681.2:g.35032228dup GRCh38
NC_000019.9:g.35523132dup , CM000681.1:g.35523132dup GRCh37
NC_000019.8:g.40214972dup NCBI36
NG_013359.1:g.6541dup

Transcript Alleles

HGVS Amino-acid change
ENST00000415950.5:c.41-300dup ENSP00000396915.2:n.41-300dup
ENST00000262631.11:c.41-300dup MANE Select ENSP00000262631.3:n.41-300dup
ENST00000415950.4:c.41-300dup ENSP00000396915.2:n.41-300dup
ENST00000596348.2:c.-59-300dup ENSP00000492247.1:n.-59-300dup
ENST00000638536.1:c.41-300dup ENSP00000492022.1:n.41-300dup
ENST00000640135.1:c.-59-300dup ENSP00000492655.1:n.-59-300dup
ENST00000262631.9:c.41-300dup ENSP00000262631.3:n.41-300dup
ENST00000415950.3:c.41-300dup ENSP00000396915.2:n.41-300dup
ENST00000595652.5:c.41-300dup ENSP00000468848.1:n.41-300dup
ENST00000596348.1:n.50-300dup
NM_001037.4:c.41-300dup NP_001028.1:n.41-300dup
NM_199037.3:c.41-300dup NP_950238.1:n.41-300dup
XM_005259144.1:c.-59-300dup XP_005259201.1:n.-59-300dup
NM_001321605.1:c.-59-300dup NP_001308534.1:n.-59-300dup
NM_199037.4:c.41-300dup NP_950238.1:n.41-300dup
NM_001037.5:c.41-300dup MANE Select NP_001028.1:n.41-300dup
NM_001321605.2:c.-59-300dup NP_001308534.1:n.-59-300dup
NM_199037.5:c.41-300dup NP_950238.1:n.41-300dup