Canonical Allele Identifier: CA477241017
Community Standard Title: NM_001040151.2(SCN3B):c.423C>A (p.Ile141=)
Gene: SCN3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.123642468G>T , CM000673.2:g.123642468G>T GRCh38
NC_000011.9:g.123513176G>T , CM000673.1:g.123513176G>T GRCh37
NC_000011.8:g.123018386G>T NCBI36
NG_016283.1:g.17140C>A , LRG_421:g.17140C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001040151.2:c.423C>A MANE Select NP_001035241.1:p.Ile141=
ENST00000299333.8:c.423C>A MANE Select ENSP00000299333.3:p.Ile141=
NM_001040151.1:c.423C>A NP_001035241.1:p.Ile141=
NM_018400.3:c.423C>A , LRG_421t1:c.423C>A NP_060870.1:p.Ile141=
NM_018400.4:c.423C>A NP_060870.1:p.Ile141=
ENST00000299333.7:c.423C>A ENSP00000299333.3:p.Ile141=
ENST00000392770.6:c.423C>A ENSP00000376523.2:p.Ile141=
ENST00000527836.5:c.423C>A ENSP00000435554.1:p.Ile141=
ENST00000530277.5:c.423C>A ENSP00000432785.1:p.Ile141=
ENST00000657123.1:c.423C>A ENSP00000499439.1:p.Ile141=
ENST00000657191.1:c.423C>A ENSP00000499755.1:p.Ile141=
ENST00000659826.1:c.119C>A
ENST00000667790.1:c.423C>A ENSP00000499234.1:p.Ile141=
XM_011542897.1:c.423C>A XP_011541199.1:p.Ile141=
XM_011542897.2:c.423C>A XP_011541199.1:p.Ile141=
XR_947858.1:n.830C>A