Canonical Allele Identifier: CA2580613106

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 1395859
• ClinVar RCV Id: RCV001919815
• dbSNP Id: rs2151746627
• gnomAD v4: 19-35033910-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033913_35033914del , CM000681.2:g.35033913_35033914del	GRCh38
NC_000019.9:g.35524817_35524818del , CM000681.1:g.35524817_35524818del	GRCh37
NC_000019.8:g.40216657_40216658del	NCBI36
NG_013359.1:g.8226_8227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.622_623del	ENSP00000396915.2:p.Leu208ValfsTer?
ENST00000262631.11:c.448+174_448+175del MANE Select	ENSP00000262631.3:n.448+174_448+175del
ENST00000415950.4:c.622_623del	ENSP00000396915.2:p.Leu208ValfsTer?
ENST00000596348.2:c.349+174_349+175del	ENSP00000492247.1:n.349+174_349+175del
ENST00000638536.1:c.448+174_448+175del	ENSP00000492022.1:n.448+174_448+175del
ENST00000640135.1:c.523_524del	ENSP00000492655.1:p.Leu175ValfsTer?
ENST00000675741.1:c.349+174_349+175del	ENSP00000502395.1:n.349+174_349+175del
ENST00000676410.1:c.349+174_349+175del	ENSP00000502717.1:n.349+174_349+175del
ENST00000262631.9:c.448+174_448+175del	ENSP00000262631.3:n.448+174_448+175del
ENST00000415950.3:c.622_623del	ENSP00000396915.2:p.Leu208ValfsTer?
ENST00000595652.5:c.235+174_235+175del	ENSP00000468848.1:n.235+174_235+175del
ENST00000596348.1:n.457+174_457+175del
NM_001037.4:c.448+174_448+175del	NP_001028.1:n.448+174_448+175del
NM_199037.3:c.622_623del	NP_950238.1:p.Leu208ValfsTer?
XM_005259144.1:c.349+174_349+175del	XP_005259201.1:n.349+174_349+175del
NM_001321605.1:c.349+174_349+175del	NP_001308534.1:n.349+174_349+175del
NM_199037.4:c.622_623del	NP_950238.1:p.Leu208ValfsTer?
NM_001037.5:c.448+174_448+175del MANE Select	NP_001028.1:n.448+174_448+175del
NM_001321605.2:c.349+174_349+175del	NP_001308534.1:n.349+174_349+175del
NM_199037.5:c.622_623del	NP_950238.1:p.Leu208ValfsTer?