Canonical Allele Identifier: CA672317350

Gene: SCN4B

Linked Data

• dbSNP Id: rs1274790429
• gnomAD v4: 11-118141339-G-A
• MyVariant Identifiers: chr11:g.118012054G>A (hg19) ; chr11:g.118141339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141339G>A , CM000673.2:g.118141339G>A	GRCh38
NC_000011.9:g.118012054G>A , CM000673.1:g.118012054G>A	GRCh37
NC_000011.8:g.117517264G>A	NCBI36
NG_011710.1:g.16577C>T , LRG_330:g.16577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.464-3C>T MANE Select	ENSP00000322460.4:n.464-3C>T
ENST00000324727.8:c.464-3C>T	ENSP00000322460.4:n.464-3C>T
ENST00000415030.6:n.607-3C>T
ENST00000423160.2:n.98-3C>T
ENST00000529878.1:c.62-3C>T	ENSP00000436343.1:n.62-3C>T
ENST00000531550.1:n.526C>T
ENST00000532138.1:n.720-3C>T
NM_001142348.1:c.62-3C>T	NP_001135820.1:n.62-3C>T
NM_001142349.1:c.134-3C>T	NP_001135821.1:n.134-3C>T
NM_174934.3:c.464-3C>T , LRG_330t1:c.464-3C>T	NP_777594.1:n.464-3C>T
NR_024527.1:n.489-3C>T
NM_001142348.2:c.62-3C>T	NP_001135820.1:n.62-3C>T
NM_001142349.2:c.134-3C>T	NP_001135821.1:n.134-3C>T
NR_024527.2:n.453-3C>T
NM_174934.4:c.464-3C>T MANE Select	NP_777594.1:n.464-3C>T