Canonical Allele Identifier: CA2584414346

Gene: SCN1B

Linked Data

• gnomAD v4: 19-35033443-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033445del , CM000681.2:g.35033445del	GRCh38
NC_000019.9:g.35524349del , CM000681.1:g.35524349del	GRCh37
NC_000019.8:g.40216189del	NCBI36
NG_013359.1:g.7758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.208-54del	ENSP00000396915.2:n.208-54del
ENST00000262631.11:c.208-54del MANE Select	ENSP00000262631.3:n.208-54del
ENST00000415950.4:c.208-54del	ENSP00000396915.2:n.208-54del
ENST00000596348.2:c.109-54del	ENSP00000492247.1:n.109-54del
ENST00000638536.1:c.208-54del	ENSP00000492022.1:n.208-54del
ENST00000640135.1:c.109-54del	ENSP00000492655.1:n.109-54del
ENST00000675741.1:c.109-54del	ENSP00000502395.1:n.109-54del
ENST00000676410.1:c.109-54del	ENSP00000502717.1:n.109-54del
ENST00000262631.9:c.208-54del	ENSP00000262631.3:n.208-54del
ENST00000415950.3:c.208-54del	ENSP00000396915.2:n.208-54del
ENST00000595652.5:c.208-267del	ENSP00000468848.1:n.208-267del
ENST00000596348.1:n.217-54del
NM_001037.4:c.208-54del	NP_001028.1:n.208-54del
NM_199037.3:c.208-54del	NP_950238.1:n.208-54del
XM_005259144.1:c.109-54del	XP_005259201.1:n.109-54del
NM_001321605.1:c.109-54del	NP_001308534.1:n.109-54del
NM_199037.4:c.208-54del	NP_950238.1:n.208-54del
NM_001037.5:c.208-54del MANE Select	NP_001028.1:n.208-54del
NM_001321605.2:c.109-54del	NP_001308534.1:n.109-54del
NM_199037.5:c.208-54del	NP_950238.1:n.208-54del