Canonical Allele Identifier: CA205080

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 190870
• ClinVar RCV Id: RCV000192329 ; RCV000687916 ; RCV000765437 ; RCV000766768
• dbSNP Id: rs786205834
• gnomAD v3: 19-35030858-T-C
• gnomAD v4: 19-35030858-T-C
• MyVariant Identifiers: chr19:g.35521762T>C (hg19) ; chr19:g.35030858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35030858T>C , CM000681.2:g.35030858T>C	GRCh38
NC_000019.9:g.35521762T>C , CM000681.1:g.35521762T>C	GRCh37
NC_000019.8:g.40213602T>C	NCBI36
NG_013359.1:g.5171T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.38T>C	ENSP00000396915.2:p.Leu13Pro
ENST00000262631.11:c.38T>C MANE Select	ENSP00000262631.3:p.Leu13Pro
ENST00000415950.4:c.38T>C	ENSP00000396915.2:p.Leu13Pro
ENST00000638536.1:c.38T>C	ENSP00000492022.1:p.Leu13Pro
ENST00000262631.9:c.38T>C	ENSP00000262631.3:p.Leu13Pro
ENST00000415950.3:c.38T>C	ENSP00000396915.2:p.Leu13Pro
ENST00000595652.5:c.38T>C	ENSP00000468848.1:p.Leu13Pro
NM_001037.4:c.38T>C	NP_001028.1:p.Leu13Pro
NM_199037.3:c.38T>C	NP_950238.1:p.Leu13Pro
NM_199037.4:c.38T>C	NP_950238.1:p.Leu13Pro
NM_001037.5:c.38T>C MANE Select	NP_001028.1:p.Leu13Pro
NM_199037.5:c.38T>C	NP_950238.1:p.Leu13Pro