Canonical Allele Identifier: CA405328631

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 651308
• ClinVar RCV Id: RCV000806634 ; RCV003238818
• dbSNP Id: rs1600364421
• gnomAD v4: 19-35033547-T-C
• MyVariant Identifiers: chr19:g.35524451T>C (hg19) ; chr19:g.35033547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033547T>C , CM000681.2:g.35033547T>C	GRCh38
NC_000019.9:g.35524451T>C , CM000681.1:g.35524451T>C	GRCh37
NC_000019.8:g.40216291T>C	NCBI36
NG_013359.1:g.7860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.256T>C	ENSP00000396915.2:p.Phe86Leu
ENST00000262631.11:c.256T>C MANE Select	ENSP00000262631.3:p.Phe86Leu
ENST00000415950.4:c.256T>C	ENSP00000396915.2:p.Phe86Leu
ENST00000596348.2:c.157T>C	ENSP00000492247.1:p.Phe53Leu
ENST00000638536.1:c.256T>C	ENSP00000492022.1:p.Phe86Leu
ENST00000640135.1:c.157T>C	ENSP00000492655.1:p.Phe53Leu
ENST00000675741.1:c.157T>C	ENSP00000502395.1:p.Phe53Leu
ENST00000676410.1:c.157T>C	ENSP00000502717.1:p.Phe53Leu
ENST00000262631.9:c.256T>C	ENSP00000262631.3:p.Phe86Leu
ENST00000415950.3:c.256T>C	ENSP00000396915.2:p.Phe86Leu
ENST00000595652.5:c.208-165T>C	ENSP00000468848.1:n.208-165T>C
ENST00000596348.1:n.265T>C
NM_001037.4:c.256T>C	NP_001028.1:p.Phe86Leu
NM_199037.3:c.256T>C	NP_950238.1:p.Phe86Leu
XM_005259144.1:c.157T>C	XP_005259201.1:p.Phe53Leu
NM_001321605.1:c.157T>C	NP_001308534.1:p.Phe53Leu
NM_199037.4:c.256T>C	NP_950238.1:p.Phe86Leu
NM_001037.5:c.256T>C MANE Select	NP_001028.1:p.Phe86Leu
NM_001321605.2:c.157T>C	NP_001308534.1:p.Phe53Leu
NM_199037.5:c.256T>C	NP_950238.1:p.Phe86Leu