Canonical Allele Identifier: CA6334029

Gene: SCN3B

Linked Data

• ClinVar Variation Id: 264285
• ClinVar RCV Id: RCV000245661 ; RCV000437142 ; RCV001521817 ; RCV003422186
• dbSNP Id: rs148484744
• ExAC: 11:123513209 C / A
• gnomAD v2: 11-123513209-C-A
• gnomAD v3: 11-123642501-C-A
• gnomAD v4: 11-123642501-C-A
• MyVariant Identifiers: chr11:g.123513209C>A (hg19) ; chr11:g.123642501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123642501C>A , CM000673.2:g.123642501C>A	GRCh38
NC_000011.9:g.123513209C>A , CM000673.1:g.123513209C>A	GRCh37
NC_000011.8:g.123018419C>A	NCBI36
NG_016283.1:g.17107G>T , LRG_421:g.17107G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.390G>T MANE Select	ENSP00000299333.3:p.Ala130=
ENST00000657123.1:c.390G>T	ENSP00000499439.1:p.Ala130=
ENST00000657191.1:c.390G>T	ENSP00000499755.1:p.Ala130=
ENST00000659826.1:c.86G>T
ENST00000667790.1:c.390G>T	ENSP00000499234.1:p.Ala130=
ENST00000299333.7:c.390G>T	ENSP00000299333.3:p.Ala130=
ENST00000392770.6:c.390G>T	ENSP00000376523.2:p.Ala130=
ENST00000527836.5:c.390G>T	ENSP00000435554.1:p.Ala130=
ENST00000530277.5:c.390G>T	ENSP00000432785.1:p.Ala130=
NM_001040151.1:c.390G>T	NP_001035241.1:p.Ala130=
NM_018400.3:c.390G>T , LRG_421t1:c.390G>T	NP_060870.1:p.Ala130=
XM_011542897.1:c.390G>T	XP_011541199.1:p.Ala130=
XR_947858.1:n.797G>T
XM_011542897.2:c.390G>T	XP_011541199.1:p.Ala130=
NM_001040151.2:c.390G>T MANE Select	NP_001035241.1:p.Ala130=
NM_018400.4:c.390G>T	NP_060870.1:p.Ala130=