Canonical Allele Identifier: CA229488490

Gene: SCN4B

Linked Data

• dbSNP Id: rs554764326
• gnomAD v2: 11-118014551-T-C
• gnomAD v4: 11-118143836-T-C
• MyVariant Identifiers: chr11:g.118014551T>C (hg19) ; chr11:g.118143836T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143836T>C , CM000673.2:g.118143836T>C	GRCh38
NC_000011.9:g.118014551T>C , CM000673.1:g.118014551T>C	GRCh37
NC_000011.8:g.117519761T>C	NCBI36
NG_011710.1:g.14080A>G , LRG_330:g.14080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.460A>G MANE Select	ENSP00000322460.4:p.Arg154Gly
ENST00000324727.8:c.460A>G	ENSP00000322460.4:p.Arg154Gly
ENST00000415030.6:n.603A>G
ENST00000529878.1:c.62-2500A>G	ENSP00000436343.1:n.62-2500A>G
ENST00000532138.1:n.719+151A>G
NM_001142348.1:c.62-2500A>G	NP_001135820.1:n.62-2500A>G
NM_001142349.1:c.130A>G	NP_001135821.1:p.Arg44Gly
NM_174934.3:c.460A>G , LRG_330t1:c.460A>G	NP_777594.1:p.Arg154Gly
NR_024527.1:n.488+151A>G
NM_001142348.2:c.62-2500A>G	NP_001135820.1:n.62-2500A>G
NM_001142349.2:c.130A>G	NP_001135821.1:p.Arg44Gly
NR_024527.2:n.452+151A>G
NM_174934.4:c.460A>G MANE Select	NP_777594.1:p.Arg154Gly