Canonical Allele Identifier: CA6300176

Gene: SCN4B

Linked Data

• dbSNP Id: rs773855642
• ExAC: 11:118011998 C / G
• gnomAD v2: 11-118011998-C-G
• gnomAD v4: 11-118141283-C-G
• MyVariant Identifiers: chr11:g.118011998C>G (hg19) ; chr11:g.118141283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141283C>G , CM000673.2:g.118141283C>G	GRCh38
NC_000011.9:g.118011998C>G , CM000673.1:g.118011998C>G	GRCh37
NC_000011.8:g.117517208C>G	NCBI36
NG_011710.1:g.16633G>C , LRG_330:g.16633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.517G>C MANE Select	ENSP00000322460.4:p.Val173Leu
ENST00000324727.8:c.517G>C	ENSP00000322460.4:p.Val173Leu
ENST00000415030.6:n.660G>C
ENST00000423160.2:n.151G>C
ENST00000529878.1:c.115G>C	ENSP00000436343.1:p.Val39Leu
ENST00000531550.1:n.582G>C
ENST00000532138.1:n.773G>C
NM_001142348.1:c.115G>C	NP_001135820.1:p.Val39Leu
NM_001142349.1:c.187G>C	NP_001135821.1:p.Val63Leu
NM_174934.3:c.517G>C , LRG_330t1:c.517G>C	NP_777594.1:p.Val173Leu
NR_024527.1:n.542G>C
NM_001142348.2:c.115G>C	NP_001135820.1:p.Val39Leu
NM_001142349.2:c.187G>C	NP_001135821.1:p.Val63Leu
NR_024527.2:n.506G>C
NM_174934.4:c.517G>C MANE Select	NP_777594.1:p.Val173Leu