Canonical Allele Identifier: CA382777485

Gene: SCN4B

Linked Data

• gnomAD v4: 11-118141244-G-A
• MyVariant Identifiers: chr11:g.118011959G>A (hg19) ; chr11:g.118141244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141244G>A , CM000673.2:g.118141244G>A	GRCh38
NC_000011.9:g.118011959G>A , CM000673.1:g.118011959G>A	GRCh37
NC_000011.8:g.117517169G>A	NCBI36
NG_011710.1:g.16672C>T , LRG_330:g.16672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.556C>T MANE Select	ENSP00000322460.4:p.Leu186Phe
ENST00000324727.8:c.556C>T	ENSP00000322460.4:p.Leu186Phe
ENST00000415030.6:n.699C>T
ENST00000423160.2:n.190C>T
ENST00000529878.1:c.154C>T	ENSP00000436343.1:p.Leu52Phe
ENST00000531550.1:n.621C>T
ENST00000532138.1:n.812C>T
NM_001142348.1:c.154C>T	NP_001135820.1:p.Leu52Phe
NM_001142349.1:c.226C>T	NP_001135821.1:p.Leu76Phe
NM_174934.3:c.556C>T , LRG_330t1:c.556C>T	NP_777594.1:p.Leu186Phe
NR_024527.1:n.581C>T
NM_001142348.2:c.154C>T	NP_001135820.1:p.Leu52Phe
NM_001142349.2:c.226C>T	NP_001135821.1:p.Leu76Phe
NR_024527.2:n.545C>T
NM_174934.4:c.556C>T MANE Select	NP_777594.1:p.Leu186Phe