Canonical Allele Identifier: CA302175

Gene: SCN1B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35039116G>A , CM000681.2:g.35039116G>A	GRCh38
NC_000019.9:g.35530020G>A , CM000681.1:g.35530020G>A	GRCh37
NC_000019.8:g.40221860G>A	NCBI36
NG_013359.1:g.13429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262631.11:c.449-1G>A MANE Select	ENSP00000262631.3:n.449-1G>A
ENST00000596348.2:c.350-1G>A	ENSP00000492247.1:n.350-1G>A
ENST00000602150.2:n.2218G>A
ENST00000638536.1:c.449-1G>A	ENSP00000492022.1:n.449-1G>A
ENST00000639260.1:n.1261G>A
ENST00000675741.1:c.476-1G>A	ENSP00000502395.1:n.476-1G>A
ENST00000676410.1:c.*167-1G>A	ENSP00000502717.1:n.*167-1G>A
ENST00000262631.9:c.449-1G>A	ENSP00000262631.3:n.449-1G>A
ENST00000595652.5:c.236-1G>A	ENSP00000468848.1:n.236-1G>A
ENST00000596348.1:n.458-1G>A
ENST00000602150.1:n.2218G>A
NM_001037.4:c.449-1G>A	NP_001028.1:n.449-1G>A
XM_005259144.1:c.350-1G>A	XP_005259201.1:n.350-1G>A
NM_001321605.1:c.350-1G>A	NP_001308534.1:n.350-1G>A
NM_001037.5:c.449-1G>A MANE Select	NP_001028.1:n.449-1G>A
NM_001321605.2:c.350-1G>A	NP_001308534.1:n.350-1G>A