Canonical Allele Identifier: CA6299955
Gene: SCN4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118134023C>T , CM000673.2:g.118134023C>T GRCh38
NC_000011.9:g.118004738C>T , CM000673.1:g.118004738C>T GRCh37
NC_000011.8:g.117509948C>T NCBI36
NG_011710.1:g.23893G>A , LRG_330:g.23893G>A

Transcript Alleles

HGVS Amino-acid Change
NM_174934.4:c.*3004G>A MANE Select NP_777594.1:n.*3004G>A
ENST00000324727.9:c.*3004G>A MANE Select ENSP00000322460.4:n.*3004G>A
NM_001142348.1:c.*3004G>A NP_001135820.1:n.*3004G>A
NM_001142348.2:c.*3004G>A NP_001135820.1:n.*3004G>A
NM_001142349.1:c.*3004G>A NP_001135821.1:n.*3004G>A
NM_001142349.2:c.*3004G>A NP_001135821.1:n.*3004G>A
NM_174934.3:c.*3004G>A , LRG_330t1:c.*3004G>A NP_777594.1:n.*3004G>A
NR_024527.1:n.3716G>A
NR_024527.2:n.3680G>A
ENST00000324727.8:c.*3004G>A ENSP00000322460.4:n.*3004G>A
ENST00000415030.6:n.3834G>A
ENST00000423160.2:n.3325G>A