Canonical Allele Identifier: CA16606187

Gene: SCN3B

Linked Data

• ClinVar Variation Id: 388069
• ClinVar RCV Id: RCV000435668 ; RCV002522416
• dbSNP Id: rs1057522984
• gnomAD v3: 11-123653740-T-C
• gnomAD v4: 11-123653740-T-C
• MyVariant Identifiers: chr11:g.123524448T>C (hg19) ; chr11:g.123653740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123653740T>C , CM000673.2:g.123653740T>C	GRCh38
NC_000011.9:g.123524448T>C , CM000673.1:g.123524448T>C	GRCh37
NC_000011.8:g.123029658T>C	NCBI36
NG_016283.1:g.5868A>G , LRG_421:g.5868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.55+7A>G MANE Select	ENSP00000299333.3:n.55+7A>G
ENST00000657123.1:c.55+7A>G	ENSP00000499439.1:n.55+7A>G
ENST00000657191.1:c.55+7A>G	ENSP00000499755.1:n.55+7A>G
ENST00000667790.1:c.55+7A>G	ENSP00000499234.1:n.55+7A>G
ENST00000299333.7:c.55+7A>G	ENSP00000299333.3:n.55+7A>G
ENST00000392770.6:c.55+7A>G	ENSP00000376523.2:n.55+7A>G
ENST00000527836.5:c.55+7A>G	ENSP00000435554.1:n.55+7A>G
ENST00000528267.1:c.55+7A>G	ENSP00000434363.1:n.55+7A>G
ENST00000530277.5:c.55+7A>G	ENSP00000432785.1:n.55+7A>G
NM_001040151.1:c.55+7A>G	NP_001035241.1:n.55+7A>G
NM_018400.3:c.55+7A>G , LRG_421t1:c.55+7A>G	NP_060870.1:n.55+7A>G
XM_011542897.1:c.55+7A>G	XP_011541199.1:n.55+7A>G
XR_947858.1:n.462+7A>G
XM_011542897.2:c.55+7A>G	XP_011541199.1:n.55+7A>G
XR_948124.3:n.2013T>C
NM_001040151.2:c.55+7A>G MANE Select	NP_001035241.1:n.55+7A>G
NM_018400.4:c.55+7A>G	NP_060870.1:n.55+7A>G