Canonical Allele Identifier: CA942695740

Gene: SCN4B

Linked Data

• dbSNP Id: rs1948097572
• gnomAD v3: 11-118141380-C-G
• gnomAD v4: 11-118141380-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141380C>G , CM000673.2:g.118141380C>G	GRCh38
NC_000011.9:g.118012095C>G , CM000673.1:g.118012095C>G	GRCh37
NC_000011.8:g.117517305C>G	NCBI36
NG_011710.1:g.16536G>C , LRG_330:g.16536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-44G>C MANE Select	ENSP00000322460.4:n.464-44G>C
ENST00000324727.8:c.464-44G>C	ENSP00000322460.4:n.464-44G>C
ENST00000415030.6:n.607-44G>C
ENST00000423160.2:n.98-44G>C
ENST00000529878.1:c.62-44G>C	ENSP00000436343.1:n.62-44G>C
ENST00000531550.1:n.485G>C
ENST00000532138.1:n.720-44G>C
NM_001142348.1:c.62-44G>C	NP_001135820.1:n.62-44G>C
NM_001142349.1:c.134-44G>C	NP_001135821.1:n.134-44G>C
NM_174934.3:c.464-44G>C , LRG_330t1:c.464-44G>C	NP_777594.1:n.464-44G>C
NR_024527.1:n.489-44G>C
NM_001142348.2:c.62-44G>C	NP_001135820.1:n.62-44G>C
NM_001142349.2:c.134-44G>C	NP_001135821.1:n.134-44G>C
NR_024527.2:n.453-44G>C
NM_174934.4:c.464-44G>C MANE Select	NP_777594.1:n.464-44G>C