Canonical Allele Identifier: CA382778129

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014642G>T (hg19) ; chr11:g.118143927G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143927G>T , CM000673.2:g.118143927G>T	GRCh38
NC_000011.9:g.118014642G>T , CM000673.1:g.118014642G>T	GRCh37
NC_000011.8:g.117519852G>T	NCBI36
NG_011710.1:g.13989C>A , LRG_330:g.13989C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.369C>A MANE Select	ENSP00000322460.4:p.Phe123Leu
ENST00000324727.8:c.369C>A	ENSP00000322460.4:p.Phe123Leu
ENST00000415030.6:n.512C>A
ENST00000529878.1:c.62-2591C>A	ENSP00000436343.1:n.62-2591C>A
ENST00000532138.1:n.719+60C>A
NM_001142348.1:c.62-2591C>A	NP_001135820.1:n.62-2591C>A
NM_001142349.1:c.39C>A	NP_001135821.1:p.Phe13Leu
NM_174934.3:c.369C>A , LRG_330t1:c.369C>A	NP_777594.1:p.Phe123Leu
NR_024527.1:n.488+60C>A
NM_001142348.2:c.62-2591C>A	NP_001135820.1:n.62-2591C>A
NM_001142349.2:c.39C>A	NP_001135821.1:p.Phe13Leu
NR_024527.2:n.452+60C>A
NM_174934.4:c.369C>A MANE Select	NP_777594.1:p.Phe123Leu