Canonical Allele Identifier: CA6300198

Gene: SCN4B

Linked Data

• dbSNP Id: rs200395188
• ExAC: 11:118012098 G / A
• gnomAD v2: 11-118012098-G-A
• gnomAD v3: 11-118141383-G-A
• gnomAD v4: 11-118141383-G-A
• MyVariant Identifiers: chr11:g.118012098G>A (hg19) ; chr11:g.118141383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141383G>A , CM000673.2:g.118141383G>A	GRCh38
NC_000011.9:g.118012098G>A , CM000673.1:g.118012098G>A	GRCh37
NC_000011.8:g.117517308G>A	NCBI36
NG_011710.1:g.16533C>T , LRG_330:g.16533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-47C>T MANE Select	ENSP00000322460.4:n.464-47C>T
ENST00000324727.8:c.464-47C>T	ENSP00000322460.4:n.464-47C>T
ENST00000415030.6:n.607-47C>T
ENST00000423160.2:n.98-47C>T
ENST00000529878.1:c.62-47C>T	ENSP00000436343.1:n.62-47C>T
ENST00000531550.1:n.482C>T
ENST00000532138.1:n.720-47C>T
NM_001142348.1:c.62-47C>T	NP_001135820.1:n.62-47C>T
NM_001142349.1:c.134-47C>T	NP_001135821.1:n.134-47C>T
NM_174934.3:c.464-47C>T , LRG_330t1:c.464-47C>T	NP_777594.1:n.464-47C>T
NR_024527.1:n.489-47C>T
NM_001142348.2:c.62-47C>T	NP_001135820.1:n.62-47C>T
NM_001142349.2:c.134-47C>T	NP_001135821.1:n.134-47C>T
NR_024527.2:n.453-47C>T
NM_174934.4:c.464-47C>T MANE Select	NP_777594.1:n.464-47C>T