Canonical Allele Identifier: CA405328881

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 1059742
• ClinVar RCV Id: RCV001369091
• dbSNP Id: rs754215948
• MyVariant Identifiers: chr19:g.35524562G>T (hg19) ; chr19:g.35033658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033658G>T , CM000681.2:g.35033658G>T	GRCh38
NC_000019.9:g.35524562G>T , CM000681.1:g.35524562G>T	GRCh37
NC_000019.8:g.40216402G>T	NCBI36
NG_013359.1:g.7971G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415950.5:c.367G>T	ENSP00000396915.2:p.Val123Phe
ENST00000262631.11:c.367G>T MANE Select	ENSP00000262631.3:p.Val123Phe
ENST00000415950.4:c.367G>T	ENSP00000396915.2:p.Val123Phe
ENST00000596348.2:c.268G>T	ENSP00000492247.1:p.Val90Phe
ENST00000638536.1:c.367G>T	ENSP00000492022.1:p.Val123Phe
ENST00000640135.1:c.268G>T	ENSP00000492655.1:p.Val90Phe
ENST00000675741.1:c.268G>T	ENSP00000502395.1:p.Val90Phe
ENST00000676410.1:c.268G>T	ENSP00000502717.1:p.Val90Phe
ENST00000262631.9:c.367G>T	ENSP00000262631.3:p.Val123Phe
ENST00000415950.3:c.367G>T	ENSP00000396915.2:p.Val123Phe
ENST00000595652.5:c.208-54G>T	ENSP00000468848.1:n.208-54G>T
ENST00000596348.1:n.376G>T
NM_001037.4:c.367G>T	NP_001028.1:p.Val123Phe
NM_199037.3:c.367G>T	NP_950238.1:p.Val123Phe
XM_005259144.1:c.268G>T	XP_005259201.1:p.Val90Phe
NM_001321605.1:c.268G>T	NP_001308534.1:p.Val90Phe
NM_199037.4:c.367G>T	NP_950238.1:p.Val123Phe
NM_001037.5:c.367G>T MANE Select	NP_001028.1:p.Val123Phe
NM_001321605.2:c.268G>T	NP_001308534.1:p.Val90Phe
NM_199037.5:c.367G>T	NP_950238.1:p.Val123Phe