Canonical Allele Identifier: CA477077254

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1661611
• ClinVar RCV Id: RCV002193173 ; RCV002346536
• dbSNP Id: rs1306208725
• gnomAD v2: 11-118011969-C-T
• gnomAD v3: 11-118141254-C-T
• gnomAD v4: 11-118141254-C-T
• MyVariant Identifiers: chr11:g.118011969C>T (hg19) ; chr11:g.118141254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141254C>T , CM000673.2:g.118141254C>T	GRCh38
NC_000011.9:g.118011969C>T , CM000673.1:g.118011969C>T	GRCh37
NC_000011.8:g.117517179C>T	NCBI36
NG_011710.1:g.16662G>A , LRG_330:g.16662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.546G>A MANE Select	ENSP00000322460.4:p.Leu182=
ENST00000324727.8:c.546G>A	ENSP00000322460.4:p.Leu182=
ENST00000415030.6:n.689G>A
ENST00000423160.2:n.180G>A
ENST00000529878.1:c.144G>A	ENSP00000436343.1:p.Leu48=
ENST00000531550.1:n.611G>A
ENST00000532138.1:n.802G>A
NM_001142348.1:c.144G>A	NP_001135820.1:p.Leu48=
NM_001142349.1:c.216G>A	NP_001135821.1:p.Leu72=
NM_174934.3:c.546G>A , LRG_330t1:c.546G>A	NP_777594.1:p.Leu182=
NR_024527.1:n.571G>A
NM_001142348.2:c.144G>A	NP_001135820.1:p.Leu48=
NM_001142349.2:c.216G>A	NP_001135821.1:p.Leu72=
NR_024527.2:n.535G>A
NM_174934.4:c.546G>A MANE Select	NP_777594.1:p.Leu182=