Canonical Allele Identifier: CA10637693

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 302595
• ClinVar RCV Id: RCV000371310
• dbSNP Id: rs886047717
• MyVariant Identifiers: chr11:g.118005151C>A (hg19) ; chr11:g.118134436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118134436C>A , CM000673.2:g.118134436C>A	GRCh38
NC_000011.9:g.118005151C>A , CM000673.1:g.118005151C>A	GRCh37
NC_000011.8:g.117510361C>A	NCBI36
NG_011710.1:g.23480G>T , LRG_330:g.23480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.*2591G>T MANE Select	ENSP00000322460.4:n.*2591G>T
ENST00000324727.8:c.*2591G>T	ENSP00000322460.4:n.*2591G>T
ENST00000415030.6:n.3421G>T
ENST00000423160.2:n.2912G>T
NM_001142348.1:c.*2591G>T	NP_001135820.1:n.*2591G>T
NM_001142349.1:c.*2591G>T	NP_001135821.1:n.*2591G>T
NM_174934.3:c.*2591G>T , LRG_330t1:c.*2591G>T	NP_777594.1:n.*2591G>T
NR_024527.1:n.3303G>T
NM_001142348.2:c.*2591G>T	NP_001135820.1:n.*2591G>T
NM_001142349.2:c.*2591G>T	NP_001135821.1:n.*2591G>T
NR_024527.2:n.3267G>T
NM_174934.4:c.*2591G>T MANE Select	NP_777594.1:n.*2591G>T