Canonical Allele Identifier: CA6333970

Gene: SCN3B

Linked Data

• ClinVar Variation Id: 519377
• ClinVar RCV Id: RCV000617294 ; RCV000983797
• dbSNP Id: rs745830643
• ExAC: 11:123504918 T / C
• gnomAD v2: 11-123504918-T-C
• gnomAD v3: 11-123634210-T-C
• gnomAD v4: 11-123634210-T-C
• MyVariant Identifiers: chr11:g.123504918T>C (hg19) ; chr11:g.123634210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123634210T>C , CM000673.2:g.123634210T>C	GRCh38
NC_000011.9:g.123504918T>C , CM000673.1:g.123504918T>C	GRCh37
NC_000011.8:g.123010128T>C	NCBI36
NG_016283.1:g.25398A>G , LRG_421:g.25398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.585-4A>G MANE Select	ENSP00000299333.3:n.585-4A>G
ENST00000655686.1:n.491-4A>G
ENST00000657123.1:c.585-4A>G	ENSP00000499439.1:n.585-4A>G
ENST00000657191.1:c.585-4A>G	ENSP00000499755.1:n.585-4A>G
ENST00000659826.1:c.334-4A>G
ENST00000667790.1:c.*566-4A>G	ENSP00000499234.1:n.*566-4A>G
ENST00000299333.7:c.585-4A>G	ENSP00000299333.3:n.585-4A>G
ENST00000392770.6:c.585-4A>G	ENSP00000376523.2:n.585-4A>G
ENST00000527125.1:n.2940-4A>G
ENST00000530277.5:c.585-4A>G	ENSP00000432785.1:n.585-4A>G
NM_001040151.1:c.585-4A>G	NP_001035241.1:n.585-4A>G
NM_018400.3:c.585-4A>G , LRG_421t1:c.585-4A>G	NP_060870.1:n.585-4A>G
XM_011542897.1:c.585-4A>G	XP_011541199.1:n.585-4A>G
XR_947858.1:n.992-4A>G
XM_011542897.2:c.585-4A>G	XP_011541199.1:n.585-4A>G
NM_001040151.2:c.585-4A>G MANE Select	NP_001035241.1:n.585-4A>G
NM_018400.4:c.585-4A>G	NP_060870.1:n.585-4A>G