Canonical Allele Identifier: CA9372045

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 632979
• ClinVar RCV Id: RCV000780700 ; RCV001438488 ; RCV001637986
• dbSNP Id: rs529053826
• ExAC: 19:35524810 C / G
• gnomAD v2: 19-35524810-C-G
• gnomAD v3: 19-35033906-C-G
• gnomAD v4: 19-35033906-C-G
• MyVariant Identifiers: chr19:g.35524810C>G (hg19) ; chr19:g.35033906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033906C>G , CM000681.2:g.35033906C>G	GRCh38
NC_000019.9:g.35524810C>G , CM000681.1:g.35524810C>G	GRCh37
NC_000019.8:g.40216650C>G	NCBI36
NG_013359.1:g.8219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.615C>G	ENSP00000396915.2:p.Leu205=
ENST00000262631.11:c.448+167C>G MANE Select	ENSP00000262631.3:n.448+167C>G
ENST00000415950.4:c.615C>G	ENSP00000396915.2:p.Leu205=
ENST00000596348.2:c.349+167C>G	ENSP00000492247.1:n.349+167C>G
ENST00000638536.1:c.448+167C>G	ENSP00000492022.1:n.448+167C>G
ENST00000640135.1:c.516C>G	ENSP00000492655.1:p.Leu172=
ENST00000675741.1:c.349+167C>G	ENSP00000502395.1:n.349+167C>G
ENST00000676410.1:c.349+167C>G	ENSP00000502717.1:n.349+167C>G
ENST00000262631.9:c.448+167C>G	ENSP00000262631.3:n.448+167C>G
ENST00000415950.3:c.615C>G	ENSP00000396915.2:p.Leu205=
ENST00000595652.5:c.235+167C>G	ENSP00000468848.1:n.235+167C>G
ENST00000596348.1:n.457+167C>G
NM_001037.4:c.448+167C>G	NP_001028.1:n.448+167C>G
NM_199037.3:c.615C>G	NP_950238.1:p.Leu205=
XM_005259144.1:c.349+167C>G	XP_005259201.1:n.349+167C>G
NM_001321605.1:c.349+167C>G	NP_001308534.1:n.349+167C>G
NM_199037.4:c.615C>G	NP_950238.1:p.Leu205=
NM_001037.5:c.448+167C>G MANE Select	NP_001028.1:n.448+167C>G
NM_001321605.2:c.349+167C>G	NP_001308534.1:n.349+167C>G
NM_199037.5:c.615C>G	NP_950238.1:p.Leu205=