Canonical Allele Identifier: CA477355813

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 929093
• ClinVar RCV Id: RCV001194049 ; RCV004033446 ; RCV003770183
• dbSNP Id: rs1208629284
• gnomAD v2: 11-118014639-G-A
• gnomAD v3: 11-118143924-G-A
• gnomAD v4: 11-118143924-G-A
• MyVariant Identifiers: chr11:g.118014639G>A (hg19) ; chr11:g.118143924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143924G>A , CM000673.2:g.118143924G>A	GRCh38
NC_000011.9:g.118014639G>A , CM000673.1:g.118014639G>A	GRCh37
NC_000011.8:g.117519849G>A	NCBI36
NG_011710.1:g.13992C>T , LRG_330:g.13992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.372C>T MANE Select	ENSP00000322460.4:p.Ser124=
ENST00000324727.8:c.372C>T	ENSP00000322460.4:p.Ser124=
ENST00000415030.6:n.515C>T
ENST00000529878.1:c.62-2588C>T	ENSP00000436343.1:n.62-2588C>T
ENST00000532138.1:n.719+63C>T
NM_001142348.1:c.62-2588C>T	NP_001135820.1:n.62-2588C>T
NM_001142349.1:c.42C>T	NP_001135821.1:p.Ser14=
NM_174934.3:c.372C>T , LRG_330t1:c.372C>T	NP_777594.1:p.Ser124=
NR_024527.1:n.488+63C>T
NM_001142348.2:c.62-2588C>T	NP_001135820.1:n.62-2588C>T
NM_001142349.2:c.42C>T	NP_001135821.1:p.Ser14=
NR_024527.2:n.452+63C>T
NM_174934.4:c.372C>T MANE Select	NP_777594.1:p.Ser124=