Canonical Allele Identifier: CA9371994

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 2843646
• ClinVar RCV Id: RCV003623110
• dbSNP Id: rs774417646
• ExAC: 19:35524434 T / C
• gnomAD v2: 19-35524434-T-C
• gnomAD v4: 19-35033530-T-C
• MyVariant Identifiers: chr19:g.35524434T>C (hg19) ; chr19:g.35033530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033530T>C , CM000681.2:g.35033530T>C	GRCh38
NC_000019.9:g.35524434T>C , CM000681.1:g.35524434T>C	GRCh37
NC_000019.8:g.40216274T>C	NCBI36
NG_013359.1:g.7843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.239T>C	ENSP00000396915.2:p.Leu80Pro
ENST00000262631.11:c.239T>C MANE Select	ENSP00000262631.3:p.Leu80Pro
ENST00000415950.4:c.239T>C	ENSP00000396915.2:p.Leu80Pro
ENST00000596348.2:c.140T>C	ENSP00000492247.1:p.Leu47Pro
ENST00000638536.1:c.239T>C	ENSP00000492022.1:p.Leu80Pro
ENST00000640135.1:c.140T>C	ENSP00000492655.1:p.Leu47Pro
ENST00000675741.1:c.140T>C	ENSP00000502395.1:p.Leu47Pro
ENST00000676410.1:c.140T>C	ENSP00000502717.1:p.Leu47Pro
ENST00000262631.9:c.239T>C	ENSP00000262631.3:p.Leu80Pro
ENST00000415950.3:c.239T>C	ENSP00000396915.2:p.Leu80Pro
ENST00000595652.5:c.208-182T>C	ENSP00000468848.1:n.208-182T>C
ENST00000596348.1:n.248T>C
NM_001037.4:c.239T>C	NP_001028.1:p.Leu80Pro
NM_199037.3:c.239T>C	NP_950238.1:p.Leu80Pro
XM_005259144.1:c.140T>C	XP_005259201.1:p.Leu47Pro
NM_001321605.1:c.140T>C	NP_001308534.1:p.Leu47Pro
NM_199037.4:c.239T>C	NP_950238.1:p.Leu80Pro
NM_001037.5:c.239T>C MANE Select	NP_001028.1:p.Leu80Pro
NM_001321605.2:c.140T>C	NP_001308534.1:p.Leu47Pro
NM_199037.5:c.239T>C	NP_950238.1:p.Leu80Pro