Canonical Allele Identifier: CA6300170

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 420671
• ClinVar RCV Id: RCV000482623 ; RCV000618216 ; RCV001451522
• dbSNP Id: rs61065977
• ExAC: 11:118011973 A / G
• gnomAD v2: 11-118011973-A-G
• gnomAD v3: 11-118141258-A-G
• gnomAD v4: 11-118141258-A-G
• MyVariant Identifiers: chr11:g.118011973A>G (hg19) ; chr11:g.118141258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141258A>G , CM000673.2:g.118141258A>G	GRCh38
NC_000011.9:g.118011973A>G , CM000673.1:g.118011973A>G	GRCh37
NC_000011.8:g.117517183A>G	NCBI36
NG_011710.1:g.16658T>C , LRG_330:g.16658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.542T>C MANE Select	ENSP00000322460.4:p.Leu181Pro
ENST00000324727.8:c.542T>C	ENSP00000322460.4:p.Leu181Pro
ENST00000415030.6:n.685T>C
ENST00000423160.2:n.176T>C
ENST00000529878.1:c.140T>C	ENSP00000436343.1:p.Leu47Pro
ENST00000531550.1:n.607T>C
ENST00000532138.1:n.798T>C
NM_001142348.1:c.140T>C	NP_001135820.1:p.Leu47Pro
NM_001142349.1:c.212T>C	NP_001135821.1:p.Leu71Pro
NM_174934.3:c.542T>C , LRG_330t1:c.542T>C	NP_777594.1:p.Leu181Pro
NR_024527.1:n.567T>C
NM_001142348.2:c.140T>C	NP_001135820.1:p.Leu47Pro
NM_001142349.2:c.212T>C	NP_001135821.1:p.Leu71Pro
NR_024527.2:n.531T>C
NM_174934.4:c.542T>C MANE Select	NP_777594.1:p.Leu181Pro