Canonical Allele Identifier: CA477355812
Gene: SCN4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118014636G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118143921G>A , CM000673.2:g.118143921G>A GRCh38
NC_000011.9:g.118014636G>A , CM000673.1:g.118014636G>A GRCh37
NC_000011.8:g.117519846G>A NCBI36
NG_011710.1:g.13995C>T , LRG_330:g.13995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324727.9:c.375C>T MANE Select ENSP00000322460.4:p.Asp125=
ENST00000324727.8:c.375C>T ENSP00000322460.4:p.Asp125=
ENST00000415030.6:n.518C>T
ENST00000529878.1:c.62-2585C>T ENSP00000436343.1:n.62-2585C>T
ENST00000532138.1:n.719+66C>T
NM_001142348.1:c.62-2585C>T NP_001135820.1:n.62-2585C>T
NM_001142349.1:c.45C>T NP_001135821.1:p.Asp15=
NM_174934.3:c.375C>T , LRG_330t1:c.375C>T NP_777594.1:p.Asp125=
NR_024527.1:n.488+66C>T
NM_001142348.2:c.62-2585C>T NP_001135820.1:n.62-2585C>T
NM_001142349.2:c.45C>T NP_001135821.1:p.Asp15=
NR_024527.2:n.452+66C>T
NM_174934.4:c.375C>T MANE Select NP_777594.1:p.Asp125=