Canonical Allele Identifier: CA405329294

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 2830553
• ClinVar RCV Id: RCV003622900
• MyVariant Identifiers: chr19:g.35524748G>C (hg19) ; chr19:g.35033844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033844G>C , CM000681.2:g.35033844G>C	GRCh38
NC_000019.9:g.35524748G>C , CM000681.1:g.35524748G>C	GRCh37
NC_000019.8:g.40216588G>C	NCBI36
NG_013359.1:g.8157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.553G>C	ENSP00000396915.2:p.Ala185Pro
ENST00000262631.11:c.448+105G>C MANE Select	ENSP00000262631.3:n.448+105G>C
ENST00000415950.4:c.553G>C	ENSP00000396915.2:p.Ala185Pro
ENST00000596348.2:c.349+105G>C	ENSP00000492247.1:n.349+105G>C
ENST00000638536.1:c.448+105G>C	ENSP00000492022.1:n.448+105G>C
ENST00000640135.1:c.454G>C	ENSP00000492655.1:p.Ala152Pro
ENST00000675741.1:c.349+105G>C	ENSP00000502395.1:n.349+105G>C
ENST00000676410.1:c.349+105G>C	ENSP00000502717.1:n.349+105G>C
ENST00000262631.9:c.448+105G>C	ENSP00000262631.3:n.448+105G>C
ENST00000415950.3:c.553G>C	ENSP00000396915.2:p.Ala185Pro
ENST00000595652.5:c.235+105G>C	ENSP00000468848.1:n.235+105G>C
ENST00000596348.1:n.457+105G>C
NM_001037.4:c.448+105G>C	NP_001028.1:n.448+105G>C
NM_199037.3:c.553G>C	NP_950238.1:p.Ala185Pro
XM_005259144.1:c.349+105G>C	XP_005259201.1:n.349+105G>C
NM_001321605.1:c.349+105G>C	NP_001308534.1:n.349+105G>C
NM_199037.4:c.553G>C	NP_950238.1:p.Ala185Pro
NM_001037.5:c.448+105G>C MANE Select	NP_001028.1:n.448+105G>C
NM_001321605.2:c.349+105G>C	NP_001308534.1:n.349+105G>C
NM_199037.5:c.553G>C	NP_950238.1:p.Ala185Pro