Canonical Allele Identifier: CA383073251

Gene: SCN3B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.123645733C>G , CM000673.2:g.123645733C>G	GRCh38
NC_000011.9:g.123516441C>G , CM000673.1:g.123516441C>G	GRCh37
NC_000011.8:g.123021651C>G	NCBI36
NG_016283.1:g.13875G>C , LRG_421:g.13875G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299333.8:c.73G>C MANE Select	ENSP00000299333.3:p.Val25Leu
ENST00000657123.1:c.73G>C	ENSP00000499439.1:p.Val25Leu
ENST00000657191.1:c.73G>C	ENSP00000499755.1:p.Val25Leu
ENST00000667790.1:c.73G>C	ENSP00000499234.1:p.Val25Leu
ENST00000299333.7:c.73G>C	ENSP00000299333.3:p.Val25Leu
ENST00000392770.6:c.73G>C	ENSP00000376523.2:p.Val25Leu
ENST00000527836.5:c.73G>C	ENSP00000435554.1:p.Val25Leu
ENST00000528267.1:c.73G>C	ENSP00000434363.1:p.Val25Leu
ENST00000530277.5:c.73G>C	ENSP00000432785.1:p.Val25Leu
NM_001040151.1:c.73G>C	NP_001035241.1:p.Val25Leu
NM_018400.3:c.73G>C , LRG_421t1:c.73G>C	NP_060870.1:p.Val25Leu
XM_011542897.1:c.73G>C	XP_011541199.1:p.Val25Leu
XR_947858.1:n.480G>C
XM_011542897.2:c.73G>C	XP_011541199.1:p.Val25Leu
NM_001040151.2:c.73G>C MANE Select	NP_001035241.1:p.Val25Leu
NM_018400.4:c.73G>C	NP_060870.1:p.Val25Leu