Canonical Allele Identifier: CA236795

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 191497
• ClinVar RCV Id: RCV000171694 ; RCV001079556 ; RCV003380503
• dbSNP Id: rs777894412
• ExAC: 11:118015894 C / G
• gnomAD v2: 11-118015894-C-G
• gnomAD v3: 11-118145179-C-G
• gnomAD v4: 11-118145179-C-G
• MyVariant Identifiers: chr11:g.118015894C>G (hg19) ; chr11:g.118145179C>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118145179C>G , CM000673.2:g.118145179C>G	GRCh38
NC_000011.9:g.118015894C>G , CM000673.1:g.118015894C>G	GRCh37
NC_000011.8:g.117521104C>G	NCBI36
NG_011710.1:g.12737G>C , LRG_330:g.12737G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.112G>C MANE Select	ENSP00000322460.4:p.Ala38Pro
ENST00000324727.8:c.112G>C	ENSP00000322460.4:p.Ala38Pro
ENST00000415030.6:n.255G>C
ENST00000529878.1:c.62-3843G>C	ENSP00000436343.1:n.62-3843G>C
ENST00000532138.1:n.522G>C
NM_001142348.1:c.62-3843G>C	NP_001135820.1:n.62-3843G>C
NM_001142349.1:c.-219G>C	NP_001135821.1:n.-219G>C
NM_174934.3:c.112G>C , LRG_330t1:c.112G>C	NP_777594.1:p.Ala38Pro
NR_024527.1:n.291G>C
NM_001142348.2:c.62-3843G>C	NP_001135820.1:n.62-3843G>C
NM_001142349.2:c.-219G>C	NP_001135821.1:n.-219G>C
NR_024527.2:n.255G>C
NM_174934.4:c.112G>C MANE Select	NP_777594.1:p.Ala38Pro