Canonical Allele Identifier: CA601870420

Gene: SCN4B

Linked Data

• dbSNP Id: rs1477906379
• gnomAD v2: 11-118012068-G-T
• gnomAD v4: 11-118141353-G-T
• MyVariant Identifiers: chr11:g.118012068G>T (hg19) ; chr11:g.118141353G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141353G>T , CM000673.2:g.118141353G>T	GRCh38
NC_000011.9:g.118012068G>T , CM000673.1:g.118012068G>T	GRCh37
NC_000011.8:g.117517278G>T	NCBI36
NG_011710.1:g.16563C>A , LRG_330:g.16563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-17C>A MANE Select	ENSP00000322460.4:n.464-17C>A
ENST00000324727.8:c.464-17C>A	ENSP00000322460.4:n.464-17C>A
ENST00000415030.6:n.607-17C>A
ENST00000423160.2:n.98-17C>A
ENST00000529878.1:c.62-17C>A	ENSP00000436343.1:n.62-17C>A
ENST00000531550.1:n.512C>A
ENST00000532138.1:n.720-17C>A
NM_001142348.1:c.62-17C>A	NP_001135820.1:n.62-17C>A
NM_001142349.1:c.134-17C>A	NP_001135821.1:n.134-17C>A
NM_174934.3:c.464-17C>A , LRG_330t1:c.464-17C>A	NP_777594.1:n.464-17C>A
NR_024527.1:n.489-17C>A
NM_001142348.2:c.62-17C>A	NP_001135820.1:n.62-17C>A
NM_001142349.2:c.134-17C>A	NP_001135821.1:n.134-17C>A
NR_024527.2:n.453-17C>A
NM_174934.4:c.464-17C>A MANE Select	NP_777594.1:n.464-17C>A