Canonical Allele Identifier: CA10575989

Gene: SCN3B

Linked Data

• ClinVar Variation Id: 224720
• ClinVar RCV Id: RCV001842965 ; RCV002515579
• dbSNP Id: rs879253730
• gnomAD v4: 11-123642468-G-C
• COSMIC: COSM3979221
• MyVariant Identifiers: chr11:g.123513176G>C (hg19) ; chr11:g.123642468G>C (hg38)
• PubMed: PMID:27435932

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.423C>G MANE Select	ENSP00000299333.3:p.Ile141Met
ENST00000657123.1:c.423C>G	ENSP00000499439.1:p.Ile141Met
ENST00000657191.1:c.423C>G	ENSP00000499755.1:p.Ile141Met
ENST00000659826.1:c.119C>G
ENST00000667790.1:c.423C>G	ENSP00000499234.1:p.Ile141Met
ENST00000299333.7:c.423C>G	ENSP00000299333.3:p.Ile141Met
ENST00000392770.6:c.423C>G	ENSP00000376523.2:p.Ile141Met
ENST00000527836.5:c.423C>G	ENSP00000435554.1:p.Ile141Met
ENST00000530277.5:c.423C>G	ENSP00000432785.1:p.Ile141Met
NM_001040151.1:c.423C>G	NP_001035241.1:p.Ile141Met
NM_018400.3:c.423C>G , LRG_421t1:c.423C>G	NP_060870.1:p.Ile141Met
XM_011542897.1:c.423C>G	XP_011541199.1:p.Ile141Met
XR_947858.1:n.830C>G
XM_011542897.2:c.423C>G	XP_011541199.1:p.Ile141Met
NM_001040151.2:c.423C>G MANE Select	NP_001035241.1:p.Ile141Met
NM_018400.4:c.423C>G	NP_060870.1:p.Ile141Met