Canonical Allele Identifier: CA658799178

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 504415
• ClinVar RCV Id: RCV000598805 ; RCV002331027 ; RCV003767421
• dbSNP Id: rs1322172446
• gnomAD v3: 19-35033738-AGGTGAGTCG-A
• gnomAD v4: 19-35033738-AGGTGAGTCG-A
• MyVariant Identifiers: chr19:g.35524647_35524655del (hg19) ; chr19:g.35524643_35524651del (hg19) ; chr19:g.35033743_35033751del (hg38) ; chr19:g.35033739_35033747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033743_35033751del , CM000681.2:g.35033743_35033751del	GRCh38
NC_000019.9:g.35524647_35524655del , CM000681.1:g.35524647_35524655del	GRCh37
NC_000019.8:g.40216487_40216495del	NCBI36
NG_013359.1:g.8056_8064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.452_460del	ENSP00000396915.2:p.Glu151_Gly153del
ENST00000262631.11:c.448+4_448+12del
ENST00000415950.4:c.452_460del	ENSP00000396915.2:p.Glu151_Gly153del
ENST00000596348.2:c.349+4_349+12del
ENST00000638536.1:c.448+4_448+12del
ENST00000640135.1:c.353_361del	ENSP00000492655.1:p.Glu118_Gly120del
ENST00000675741.1:c.349+4_349+12del
ENST00000676410.1:c.349+4_349+12del
ENST00000262631.9:c.448+4_448+12del
ENST00000415950.3:c.452_460del	ENSP00000396915.2:p.Glu151_Gly153del
ENST00000595652.5:c.235+4_235+12del
ENST00000596348.1:n.457+4_457+12del
NM_001037.4:c.448+4_448+12del
NM_199037.3:c.452_460del	NP_950238.1:p.Glu151_Gly153del
XM_005259144.1:c.349+4_349+12del
NM_001321605.1:c.349+4_349+12del
NM_199037.4:c.452_460del	NP_950238.1:p.Glu151_Gly153del
NM_001037.5:c.448+4_448+12del
NM_001321605.2:c.349+4_349+12del
NM_199037.5:c.452_460del	NP_950238.1:p.Glu151_Gly153del