Canonical Allele Identifier: CA2322044
Gene: SCN11A HGNC NCBI

Linked Data

ClinVar Variation Id: 2925033
ClinVar RCV Id: RCV003780687
dbSNP Id: rs200598917
gnomAD v2: 3-38936463-T-C
gnomAD v3: 3-38894972-T-C
gnomAD v4: 3-38894972-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894972T>C , CM000665.2:g.38894972T>C GRCh38
NC_000003.11:g.38936463T>C , CM000665.1:g.38936463T>C GRCh37
NC_000003.10:g.38911467T>C NCBI36
NG_033859.1:g.60590A>G
NG_033859.2:g.162015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.2404-8A>G MANE Select ENSP00000307599.3:n.2404-8A>G
ENST00000668754.1:c.2404-8A>G ENSP00000499569.1:n.2404-8A>G
ENST00000675223.1:c.2404-8A>G ENSP00000502481.1:n.2404-8A>G
ENST00000675672.1:c.2404-8A>G ENSP00000502446.1:n.2404-8A>G
ENST00000675892.1:c.2224-8A>G ENSP00000502318.1:n.2224-8A>G
ENST00000676045.1:c.2448-8A>G ENSP00000501685.1:n.2448-8A>G
ENST00000676176.1:c.2023-8A>G ENSP00000501891.1:n.2023-8A>G
ENST00000302328.7:c.2404-8A>G ENSP00000307599.3:n.2404-8A>G
ENST00000444237.2:c.2404-8A>G ENSP00000408028.2:n.2404-8A>G
ENST00000456224.7:c.2404-8A>G ENSP00000416757.3:n.2404-8A>G
NM_001287223.1:c.2404-8A>G NP_001274152.1:n.2404-8A>G
NM_014139.2:c.2404-8A>G NP_054858.2:n.2404-8A>G
XM_011533320.1:c.2404-8A>G XP_011531622.1:n.2404-8A>G
XM_011533321.1:c.1741-8A>G XP_011531623.1:n.1741-8A>G
XM_011533322.1:c.952-8A>G XP_011531624.1:n.952-8A>G
NM_001349253.1:c.2404-8A>G NP_001336182.1:n.2404-8A>G
XM_011533321.2:c.1741-8A>G XP_011531623.1:n.1741-8A>G
XM_017005647.1:c.2779-8A>G XP_016861136.1:n.2779-8A>G
XM_017005648.1:c.2206-8A>G XP_016861137.1:n.2206-8A>G
XM_017005650.1:c.2404-8A>G XP_016861139.1:n.2404-8A>G
XM_017005651.1:c.2131-8A>G XP_016861140.1:n.2131-8A>G
XM_017005652.1:c.2404-8A>G XP_016861141.1:n.2404-8A>G
XM_017005653.1:c.808-8A>G XP_016861142.1:n.808-8A>G
NM_001349253.2:c.2404-8A>G MANE Select NP_001336182.1:n.2404-8A>G
NM_014139.3:c.2404-8A>G NP_054858.2:n.2404-8A>G