Canonical Allele Identifier: CA477355770

Gene: SCN4B

Linked Data

• dbSNP Id: rs1234899074
• gnomAD v3: 11-118143840-A-C
• gnomAD v4: 11-118143840-A-C
• MyVariant Identifiers: chr11:g.118014555A>C (hg19) ; chr11:g.118143840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143840A>C , CM000673.2:g.118143840A>C	GRCh38
NC_000011.9:g.118014555A>C , CM000673.1:g.118014555A>C	GRCh37
NC_000011.8:g.117519765A>C	NCBI36
NG_011710.1:g.14076T>G , LRG_330:g.14076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.456T>G MANE Select	ENSP00000322460.4:p.Val152=
ENST00000324727.8:c.456T>G	ENSP00000322460.4:p.Val152=
ENST00000415030.6:n.599T>G
ENST00000529878.1:c.62-2504T>G	ENSP00000436343.1:n.62-2504T>G
ENST00000532138.1:n.719+147T>G
NM_001142348.1:c.62-2504T>G	NP_001135820.1:n.62-2504T>G
NM_001142349.1:c.126T>G	NP_001135821.1:p.Val42=
NM_174934.3:c.456T>G , LRG_330t1:c.456T>G	NP_777594.1:p.Val152=
NR_024527.1:n.488+147T>G
NM_001142348.2:c.62-2504T>G	NP_001135820.1:n.62-2504T>G
NM_001142349.2:c.126T>G	NP_001135821.1:p.Val42=
NR_024527.2:n.452+147T>G
NM_174934.4:c.456T>G MANE Select	NP_777594.1:p.Val152=