Canonical Allele Identifier: CA145435
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 89013
ClinVar RCV Id: RCV000074496
dbSNP Id: rs483352921

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894945G>C , CM000665.2:g.38894945G>C GRCh38
NC_000003.11:g.38936436G>C , CM000665.1:g.38936436G>C GRCh37
NC_000003.10:g.38911440G>C NCBI36
NG_033859.1:g.60617C>G
NG_033859.2:g.162042C>G

Transcript Alleles

HGVS Amino-acid change
NM_001287223.1:c.2423C>G NP_001274152.1:p.Ala808Gly
NM_014139.2:c.2423C>G NP_054858.2:p.Ala808Gly
XM_011533320.1:c.2423C>G XP_011531622.1:p.Ala808Gly
XM_011533321.1:c.1760C>G XP_011531623.1:p.Ala587Gly
XM_011533322.1:c.971C>G XP_011531624.1:p.Ala324Gly
NM_001349253.1:c.2423C>G NP_001336182.1:p.Ala808Gly
XM_011533321.2:c.1760C>G XP_011531623.1:p.Ala587Gly
XM_017005647.1:c.2798C>G XP_016861136.1:p.Ala933Gly
XM_017005648.1:c.2225C>G XP_016861137.1:p.Ala742Gly
XM_017005650.1:c.2423C>G XP_016861139.1:p.Ala808Gly
XM_017005651.1:c.2150C>G XP_016861140.1:p.Ala717Gly
XM_017005652.1:c.2423C>G XP_016861141.1:p.Ala808Gly
XM_017005653.1:c.827C>G XP_016861142.1:p.Ala276Gly
NM_001349253.2:c.2423C>G MANE Select NP_001336182.1:p.Ala808Gly
NM_014139.3:c.2423C>G NP_054858.2:p.Ala808Gly
ENST00000302328.7:c.2423C>G ENSP00000307599.3:p.Ala808Gly
ENST00000444237.2:c.2423C>G ENSP00000408028.2:p.Ala808Gly
ENST00000456224.7:n.2423C>G ENSP00000416757.3:p.Ala808Gly