Canonical Allele Identifier: CA405328837

Gene: SCN1B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033638C>T , CM000681.2:g.35033638C>T	GRCh38
NC_000019.9:g.35524542C>T , CM000681.1:g.35524542C>T	GRCh37
NC_000019.8:g.40216382C>T	NCBI36
NG_013359.1:g.7951C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001037.5:c.347C>T MANE Select	NP_001028.1:p.Ser116Leu
ENST00000262631.11:c.347C>T MANE Select	ENSP00000262631.3:p.Ser116Leu
NM_001037.4:c.347C>T	NP_001028.1:p.Ser116Leu
NM_001321605.1:c.248C>T	NP_001308534.1:p.Ser83Leu
NM_001321605.2:c.248C>T	NP_001308534.1:p.Ser83Leu
NM_199037.3:c.347C>T	NP_950238.1:p.Ser116Leu
NM_199037.4:c.347C>T	NP_950238.1:p.Ser116Leu
NM_199037.5:c.347C>T	NP_950238.1:p.Ser116Leu
ENST00000262631.9:c.347C>T	ENSP00000262631.3:p.Ser116Leu
ENST00000415950.3:c.347C>T	ENSP00000396915.2:p.Ser116Leu
ENST00000415950.4:c.347C>T	ENSP00000396915.2:p.Ser116Leu
ENST00000415950.5:c.347C>T	ENSP00000396915.2:p.Ser116Leu
ENST00000595652.5:c.208-74C>T	ENSP00000468848.1:n.208-74C>T
ENST00000596348.1:n.356C>T
ENST00000596348.2:c.248C>T	ENSP00000492247.1:p.Ser83Leu
ENST00000638536.1:c.347C>T	ENSP00000492022.1:p.Ser116Leu
ENST00000640135.1:c.248C>T	ENSP00000492655.1:p.Ser83Leu
ENST00000675741.1:c.248C>T	ENSP00000502395.1:p.Ser83Leu
ENST00000676410.1:c.248C>T	ENSP00000502717.1:p.Ser83Leu
XM_005259144.1:c.248C>T	XP_005259201.1:p.Ser83Leu