Canonical Allele Identifier: CA633056585

Gene: SCN1B

Linked Data

• dbSNP Id: rs1425539838
• gnomAD v2: 19-35524808-CT-C
• gnomAD v4: 19-35033904-CT-C
• MyVariant Identifiers: chr19:g.35524809del (hg19) ; chr19:g.35033905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033905del , CM000681.2:g.35033905del	GRCh38
NC_000019.9:g.35524809del , CM000681.1:g.35524809del	GRCh37
NC_000019.8:g.40216649del	NCBI36
NG_013359.1:g.8218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.614del	ENSP00000396915.2:p.Leu205ProfsTer?
ENST00000262631.11:c.448+166del MANE Select	ENSP00000262631.3:n.448+166del
ENST00000415950.4:c.614del	ENSP00000396915.2:p.Leu205ProfsTer?
ENST00000596348.2:c.349+166del	ENSP00000492247.1:n.349+166del
ENST00000638536.1:c.448+166del	ENSP00000492022.1:n.448+166del
ENST00000640135.1:c.515del	ENSP00000492655.1:p.Leu172ProfsTer?
ENST00000675741.1:c.349+166del	ENSP00000502395.1:n.349+166del
ENST00000676410.1:c.349+166del	ENSP00000502717.1:n.349+166del
ENST00000262631.9:c.448+166del	ENSP00000262631.3:n.448+166del
ENST00000415950.3:c.614del	ENSP00000396915.2:p.Leu205ProfsTer?
ENST00000595652.5:c.235+166del	ENSP00000468848.1:n.235+166del
ENST00000596348.1:n.457+166del
NM_001037.4:c.448+166del	NP_001028.1:n.448+166del
NM_199037.3:c.614del	NP_950238.1:p.Leu205ProfsTer?
XM_005259144.1:c.349+166del	XP_005259201.1:n.349+166del
NM_001321605.1:c.349+166del	NP_001308534.1:n.349+166del
NM_199037.4:c.614del	NP_950238.1:p.Leu205ProfsTer?
NM_001037.5:c.448+166del MANE Select	NP_001028.1:n.448+166del
NM_001321605.2:c.349+166del	NP_001308534.1:n.349+166del
NM_199037.5:c.614del	NP_950238.1:p.Leu205ProfsTer?