Canonical Allele Identifier: CA14727236

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 891556
• ClinVar RCV Id: RCV001126916 ; RCV001126915 ; RCV001655683
• dbSNP Id: rs2278995
• gnomAD v2: 19-35530737-T-C
• gnomAD v3: 19-35039833-T-C
• gnomAD v4: 19-35039833-T-C
• MyVariant Identifiers: chr19:g.35530737T>C (hg19) ; chr19:g.35039833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35039833T>C , CM000681.2:g.35039833T>C	GRCh38
NC_000019.9:g.35530737T>C , CM000681.1:g.35530737T>C	GRCh37
NC_000019.8:g.40222577T>C	NCBI36
NG_013359.1:g.14146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262631.11:c.*42T>C MANE Select	ENSP00000262631.3:n.*42T>C
ENST00000596348.2:c.*42T>C	ENSP00000492247.1:n.*42T>C
ENST00000602150.2:n.2845T>C
ENST00000638536.1:c.*132T>C	ENSP00000492022.1:n.*132T>C
ENST00000675741.1:c.*42T>C	ENSP00000502395.1:n.*42T>C
ENST00000676410.1:c.*417T>C	ENSP00000502717.1:n.*417T>C
ENST00000262631.9:c.*42T>C	ENSP00000262631.3:n.*42T>C
ENST00000595652.5:c.*42T>C	ENSP00000468848.1:n.*42T>C
ENST00000602150.1:n.2845T>C
NM_001037.4:c.*42T>C	NP_001028.1:n.*42T>C
XM_005259144.1:c.*42T>C	XP_005259201.1:n.*42T>C
NM_001321605.1:c.*42T>C	NP_001308534.1:n.*42T>C
NM_001037.5:c.*42T>C MANE Select	NP_001028.1:n.*42T>C
NM_001321605.2:c.*42T>C	NP_001308534.1:n.*42T>C