Canonical Allele Identifier: CA6300052

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118136041G>C , CM000673.2:g.118136041G>C	GRCh38
NC_000011.9:g.118006756G>C , CM000673.1:g.118006756G>C	GRCh37
NC_000011.8:g.117511966G>C	NCBI36
NG_011710.1:g.21875C>G , LRG_330:g.21875C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_174934.4:c.*986C>G MANE Select	NP_777594.1:n.*986C>G
ENST00000324727.9:c.*986C>G MANE Select	ENSP00000322460.4:n.*986C>G
NM_001142348.1:c.*986C>G	NP_001135820.1:n.*986C>G
NM_001142348.2:c.*986C>G	NP_001135820.1:n.*986C>G
NM_001142349.1:c.*986C>G	NP_001135821.1:n.*986C>G
NM_001142349.2:c.*986C>G	NP_001135821.1:n.*986C>G
NM_174934.3:c.*986C>G , LRG_330t1:c.*986C>G	NP_777594.1:n.*986C>G
NR_024527.1:n.1698C>G
NR_024527.2:n.1662C>G
ENST00000324727.8:c.*986C>G	ENSP00000322460.4:n.*986C>G
ENST00000415030.6:n.1816C>G
ENST00000423160.2:n.1307C>G