Canonical Allele Identifier: CA382777459

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011946A>T (hg19) ; chr11:g.118141231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141231A>T , CM000673.2:g.118141231A>T	GRCh38
NC_000011.9:g.118011946A>T , CM000673.1:g.118011946A>T	GRCh37
NC_000011.8:g.117517156A>T	NCBI36
NG_011710.1:g.16685T>A , LRG_330:g.16685T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.569T>A MANE Select	ENSP00000322460.4:p.Ile190Asn
ENST00000324727.8:c.569T>A	ENSP00000322460.4:p.Ile190Asn
ENST00000415030.6:n.712T>A
ENST00000423160.2:n.203T>A
ENST00000529878.1:c.167T>A	ENSP00000436343.1:p.Ile56Asn
ENST00000531550.1:n.634T>A
ENST00000532138.1:n.825T>A
NM_001142348.1:c.167T>A	NP_001135820.1:p.Ile56Asn
NM_001142349.1:c.239T>A	NP_001135821.1:p.Ile80Asn
NM_174934.3:c.569T>A , LRG_330t1:c.569T>A	NP_777594.1:p.Ile190Asn
NR_024527.1:n.594T>A
NM_001142348.2:c.167T>A	NP_001135820.1:p.Ile56Asn
NM_001142349.2:c.239T>A	NP_001135821.1:p.Ile80Asn
NR_024527.2:n.558T>A
NM_174934.4:c.569T>A MANE Select	NP_777594.1:p.Ile190Asn