Canonical Allele Identifier: CA477355815
Gene: SCN4B HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118014645C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118143930C>T , CM000673.2:g.118143930C>T GRCh38
NC_000011.9:g.118014645C>T , CM000673.1:g.118014645C>T GRCh37
NC_000011.8:g.117519855C>T NCBI36
NG_011710.1:g.13986G>A , LRG_330:g.13986G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000324727.9:c.366G>A MANE Select ENSP00000322460.4:p.Glu122=
ENST00000324727.8:c.366G>A ENSP00000322460.4:p.Glu122=
ENST00000415030.6:n.509G>A
ENST00000529878.1:c.62-2594G>A ENSP00000436343.1:n.62-2594G>A
ENST00000532138.1:n.719+57G>A
NM_001142348.1:c.62-2594G>A NP_001135820.1:n.62-2594G>A
NM_001142349.1:c.36G>A NP_001135821.1:p.Glu12=
NM_174934.3:c.366G>A , LRG_330t1:c.366G>A NP_777594.1:p.Glu122=
NR_024527.1:n.488+57G>A
NM_001142348.2:c.62-2594G>A NP_001135820.1:n.62-2594G>A
NM_001142349.2:c.36G>A NP_001135821.1:p.Glu12=
NR_024527.2:n.452+57G>A
NM_174934.4:c.366G>A MANE Select NP_777594.1:p.Glu122=