Canonical Allele Identifier: CA229487337

Gene: SCN4B

Linked Data

• dbSNP Id: rs1008591483
• MyVariant Identifiers: chr11:g.118012075A>C (hg19) ; chr11:g.118141360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141360A>C , CM000673.2:g.118141360A>C	GRCh38
NC_000011.9:g.118012075A>C , CM000673.1:g.118012075A>C	GRCh37
NC_000011.8:g.117517285A>C	NCBI36
NG_011710.1:g.16556T>G , LRG_330:g.16556T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-24T>G MANE Select	ENSP00000322460.4:n.464-24T>G
ENST00000324727.8:c.464-24T>G	ENSP00000322460.4:n.464-24T>G
ENST00000415030.6:n.607-24T>G
ENST00000423160.2:n.98-24T>G
ENST00000529878.1:c.62-24T>G	ENSP00000436343.1:n.62-24T>G
ENST00000531550.1:n.505T>G
ENST00000532138.1:n.720-24T>G
NM_001142348.1:c.62-24T>G	NP_001135820.1:n.62-24T>G
NM_001142349.1:c.134-24T>G	NP_001135821.1:n.134-24T>G
NM_174934.3:c.464-24T>G , LRG_330t1:c.464-24T>G	NP_777594.1:n.464-24T>G
NR_024527.1:n.489-24T>G
NM_001142348.2:c.62-24T>G	NP_001135820.1:n.62-24T>G
NM_001142349.2:c.134-24T>G	NP_001135821.1:n.134-24T>G
NR_024527.2:n.453-24T>G
NM_174934.4:c.464-24T>G MANE Select	NP_777594.1:n.464-24T>G