Canonical Allele Identifier: CA6300224

Gene: SCN4B

Linked Data

• dbSNP Id: rs766371692
• ExAC: 11:118014623 T / G
• gnomAD v2: 11-118014623-T-G
• MyVariant Identifiers: chr11:g.118014623T>G (hg19) ; chr11:g.118143908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118143908T>G , CM000673.2:g.118143908T>G	GRCh38
NC_000011.9:g.118014623T>G , CM000673.1:g.118014623T>G	GRCh37
NC_000011.8:g.117519833T>G	NCBI36
NG_011710.1:g.14008A>C , LRG_330:g.14008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.388A>C MANE Select	ENSP00000322460.4:p.Thr130Pro
ENST00000324727.8:c.388A>C	ENSP00000322460.4:p.Thr130Pro
ENST00000415030.6:n.531A>C
ENST00000529878.1:c.62-2572A>C	ENSP00000436343.1:n.62-2572A>C
ENST00000532138.1:n.719+79A>C
NM_001142348.1:c.62-2572A>C	NP_001135820.1:n.62-2572A>C
NM_001142349.1:c.58A>C	NP_001135821.1:p.Thr20Pro
NM_174934.3:c.388A>C , LRG_330t1:c.388A>C	NP_777594.1:p.Thr130Pro
NR_024527.1:n.488+79A>C
NM_001142348.2:c.62-2572A>C	NP_001135820.1:n.62-2572A>C
NM_001142349.2:c.58A>C	NP_001135821.1:p.Thr20Pro
NR_024527.2:n.452+79A>C
NM_174934.4:c.388A>C MANE Select	NP_777594.1:p.Thr130Pro