Canonical Allele Identifier: CA382777499

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011964T>G (hg19) ; chr11:g.118141249T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141249T>G , CM000673.2:g.118141249T>G	GRCh38
NC_000011.9:g.118011964T>G , CM000673.1:g.118011964T>G	GRCh37
NC_000011.8:g.117517174T>G	NCBI36
NG_011710.1:g.16667A>C , LRG_330:g.16667A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.551A>C MANE Select	ENSP00000322460.4:p.Lys184Thr
ENST00000324727.8:c.551A>C	ENSP00000322460.4:p.Lys184Thr
ENST00000415030.6:n.694A>C
ENST00000423160.2:n.185A>C
ENST00000529878.1:c.149A>C	ENSP00000436343.1:p.Lys50Thr
ENST00000531550.1:n.616A>C
ENST00000532138.1:n.807A>C
NM_001142348.1:c.149A>C	NP_001135820.1:p.Lys50Thr
NM_001142349.1:c.221A>C	NP_001135821.1:p.Lys74Thr
NM_174934.3:c.551A>C , LRG_330t1:c.551A>C	NP_777594.1:p.Lys184Thr
NR_024527.1:n.576A>C
NM_001142348.2:c.149A>C	NP_001135820.1:p.Lys50Thr
NM_001142349.2:c.221A>C	NP_001135821.1:p.Lys74Thr
NR_024527.2:n.540A>C
NM_174934.4:c.551A>C MANE Select	NP_777594.1:p.Lys184Thr