Canonical Allele Identifier: CA10637732
Gene: SCN4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118143934A>G , CM000673.2:g.118143934A>G GRCh38
NC_000011.9:g.118014649A>G , CM000673.1:g.118014649A>G GRCh37
NC_000011.8:g.117519859A>G NCBI36
NG_011710.1:g.13982T>C , LRG_330:g.13982T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.362T>C MANE Select ENSP00000322460.4:p.Leu121Pro
ENST00000324727.8:c.362T>C ENSP00000322460.4:p.Leu121Pro
ENST00000415030.6:n.505T>C
ENST00000529878.1:c.62-2598T>C ENSP00000436343.1:n.62-2598T>C
ENST00000532138.1:n.719+53T>C
NM_001142348.1:c.62-2598T>C NP_001135820.1:n.62-2598T>C
NM_001142349.1:c.32T>C NP_001135821.1:p.Leu11Pro
NM_174934.3:c.362T>C , LRG_330t1:c.362T>C NP_777594.1:p.Leu121Pro
NR_024527.1:n.488+53T>C
NM_001142348.2:c.62-2598T>C NP_001135820.1:n.62-2598T>C
NM_001142349.2:c.32T>C NP_001135821.1:p.Leu11Pro
NR_024527.2:n.452+53T>C
NM_174934.4:c.362T>C MANE Select NP_777594.1:p.Leu121Pro