Canonical Allele Identifier: CA382777845

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118143848-G-A
• MyVariant Identifiers: chr11:g.118014563G>A (hg19) ; chr11:g.118143848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143848G>A , CM000673.2:g.118143848G>A	GRCh38
NC_000011.9:g.118014563G>A , CM000673.1:g.118014563G>A	GRCh37
NC_000011.8:g.117519773G>A	NCBI36
NG_011710.1:g.14068C>T , LRG_330:g.14068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.448C>T MANE Select	ENSP00000322460.4:p.Gln150Ter
ENST00000324727.8:c.448C>T	ENSP00000322460.4:p.Gln150Ter
ENST00000415030.6:n.591C>T
ENST00000529878.1:c.62-2512C>T	ENSP00000436343.1:n.62-2512C>T
ENST00000532138.1:n.719+139C>T
NM_001142348.1:c.62-2512C>T	NP_001135820.1:n.62-2512C>T
NM_001142349.1:c.118C>T	NP_001135821.1:p.Gln40Ter
NM_174934.3:c.448C>T , LRG_330t1:c.448C>T	NP_777594.1:p.Gln150Ter
NR_024527.1:n.488+139C>T
NM_001142348.2:c.62-2512C>T	NP_001135820.1:n.62-2512C>T
NM_001142349.2:c.118C>T	NP_001135821.1:p.Gln40Ter
NR_024527.2:n.452+139C>T
NM_174934.4:c.448C>T MANE Select	NP_777594.1:p.Gln150Ter