Canonical Allele Identifier: CA382778147

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118014647C>T (hg19) ; chr11:g.118143932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143932C>T , CM000673.2:g.118143932C>T	GRCh38
NC_000011.9:g.118014647C>T , CM000673.1:g.118014647C>T	GRCh37
NC_000011.8:g.117519857C>T	NCBI36
NG_011710.1:g.13984G>A , LRG_330:g.13984G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.364G>A MANE Select	ENSP00000322460.4:p.Glu122Lys
ENST00000324727.8:c.364G>A	ENSP00000322460.4:p.Glu122Lys
ENST00000415030.6:n.507G>A
ENST00000529878.1:c.62-2596G>A	ENSP00000436343.1:n.62-2596G>A
ENST00000532138.1:n.719+55G>A
NM_001142348.1:c.62-2596G>A	NP_001135820.1:n.62-2596G>A
NM_001142349.1:c.34G>A	NP_001135821.1:p.Glu12Lys
NM_174934.3:c.364G>A , LRG_330t1:c.364G>A	NP_777594.1:p.Glu122Lys
NR_024527.1:n.488+55G>A
NM_001142348.2:c.62-2596G>A	NP_001135820.1:n.62-2596G>A
NM_001142349.2:c.34G>A	NP_001135821.1:p.Glu12Lys
NR_024527.2:n.452+55G>A
NM_174934.4:c.364G>A MANE Select	NP_777594.1:p.Glu122Lys