Canonical Allele Identifier: CA16607772

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 388864
• ClinVar RCV Id: RCV000434402 ; RCV002522478
• dbSNP Id: rs1057523254
• MyVariant Identifiers: chr19:g.35523608T>C (hg19) ; chr19:g.35032704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35032704T>C , CM000681.2:g.35032704T>C	GRCh38
NC_000019.9:g.35523608T>C , CM000681.1:g.35523608T>C	GRCh37
NC_000019.8:g.40215448T>C	NCBI36
NG_013359.1:g.7017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.207+10T>C	ENSP00000396915.2:n.207+10T>C
ENST00000262631.11:c.207+10T>C MANE Select	ENSP00000262631.3:n.207+10T>C
ENST00000415950.4:c.207+10T>C	ENSP00000396915.2:n.207+10T>C
ENST00000596348.2:c.108+10T>C	ENSP00000492247.1:n.108+10T>C
ENST00000638536.1:c.207+10T>C	ENSP00000492022.1:n.207+10T>C
ENST00000640135.1:c.108+10T>C	ENSP00000492655.1:n.108+10T>C
ENST00000675741.1:c.108+10T>C	ENSP00000502395.1:n.108+10T>C
ENST00000676410.1:c.108+10T>C	ENSP00000502717.1:n.108+10T>C
ENST00000262631.9:c.207+10T>C	ENSP00000262631.3:n.207+10T>C
ENST00000415950.3:c.207+10T>C	ENSP00000396915.2:n.207+10T>C
ENST00000595652.5:c.207+10T>C	ENSP00000468848.1:n.207+10T>C
ENST00000596348.1:n.216+10T>C
NM_001037.4:c.207+10T>C	NP_001028.1:n.207+10T>C
NM_199037.3:c.207+10T>C	NP_950238.1:n.207+10T>C
XM_005259144.1:c.108+10T>C	XP_005259201.1:n.108+10T>C
NM_001321605.1:c.108+10T>C	NP_001308534.1:n.108+10T>C
NM_199037.4:c.207+10T>C	NP_950238.1:n.207+10T>C
NM_001037.5:c.207+10T>C MANE Select	NP_001028.1:n.207+10T>C
NM_001321605.2:c.108+10T>C	NP_001308534.1:n.108+10T>C
NM_199037.5:c.207+10T>C	NP_950238.1:n.207+10T>C