Canonical Allele Identifier: CA477355809
Gene: SCN4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118014630G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118143915G>T , CM000673.2:g.118143915G>T GRCh38
NC_000011.9:g.118014630G>T , CM000673.1:g.118014630G>T GRCh37
NC_000011.8:g.117519840G>T NCBI36
NG_011710.1:g.14001C>A , LRG_330:g.14001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.381C>A MANE Select ENSP00000322460.4:p.Gly127=
ENST00000324727.8:c.381C>A ENSP00000322460.4:p.Gly127=
ENST00000415030.6:n.524C>A
ENST00000529878.1:c.62-2579C>A ENSP00000436343.1:n.62-2579C>A
ENST00000532138.1:n.719+72C>A
NM_001142348.1:c.62-2579C>A NP_001135820.1:n.62-2579C>A
NM_001142349.1:c.51C>A NP_001135821.1:p.Gly17=
NM_174934.3:c.381C>A , LRG_330t1:c.381C>A NP_777594.1:p.Gly127=
NR_024527.1:n.488+72C>A
NM_001142348.2:c.62-2579C>A NP_001135820.1:n.62-2579C>A
NM_001142349.2:c.51C>A NP_001135821.1:p.Gly17=
NR_024527.2:n.452+72C>A
NM_174934.4:c.381C>A MANE Select NP_777594.1:p.Gly127=