Canonical Allele Identifier: CA9371992

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 2562704
• ClinVar RCV Id: RCV003296697
• dbSNP Id: rs565457053
• ExAC: 19:35524424 G / A
• gnomAD v2: 19-35524424-G-A
• gnomAD v3: 19-35033520-G-A
• gnomAD v4: 19-35033520-G-A
• MyVariant Identifiers: chr19:g.35524424G>A (hg19) ; chr19:g.35033520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033520G>A , CM000681.2:g.35033520G>A	GRCh38
NC_000019.9:g.35524424G>A , CM000681.1:g.35524424G>A	GRCh37
NC_000019.8:g.40216264G>A	NCBI36
NG_013359.1:g.7833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.229G>A	ENSP00000396915.2:p.Val77Met
ENST00000262631.11:c.229G>A MANE Select	ENSP00000262631.3:p.Val77Met
ENST00000415950.4:c.229G>A	ENSP00000396915.2:p.Val77Met
ENST00000596348.2:c.130G>A	ENSP00000492247.1:p.Val44Met
ENST00000638536.1:c.229G>A	ENSP00000492022.1:p.Val77Met
ENST00000640135.1:c.130G>A	ENSP00000492655.1:p.Val44Met
ENST00000675741.1:c.130G>A	ENSP00000502395.1:p.Val44Met
ENST00000676410.1:c.130G>A	ENSP00000502717.1:p.Val44Met
ENST00000262631.9:c.229G>A	ENSP00000262631.3:p.Val77Met
ENST00000415950.3:c.229G>A	ENSP00000396915.2:p.Val77Met
ENST00000595652.5:c.208-192G>A	ENSP00000468848.1:n.208-192G>A
ENST00000596348.1:n.238G>A
NM_001037.4:c.229G>A	NP_001028.1:p.Val77Met
NM_199037.3:c.229G>A	NP_950238.1:p.Val77Met
XM_005259144.1:c.130G>A	XP_005259201.1:p.Val44Met
NM_001321605.1:c.130G>A	NP_001308534.1:p.Val44Met
NM_199037.4:c.229G>A	NP_950238.1:p.Val77Met
NM_001037.5:c.229G>A MANE Select	NP_001028.1:p.Val77Met
NM_001321605.2:c.130G>A	NP_001308534.1:p.Val44Met
NM_199037.5:c.229G>A	NP_950238.1:p.Val77Met