Canonical Allele Identifier: CA2665128583
Gene: SCN11A HGNC NCBI

Linked Data

gnomAD v4: 3-38909307-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38909307G>C , CM000665.2:g.38909307G>C GRCh38
NC_000003.11:g.38950798G>C , CM000665.1:g.38950798G>C GRCh37
NC_000003.10:g.38925802G>C NCBI36
NG_033859.1:g.46255C>G
NG_033859.2:g.147680C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.1102-113C>G MANE Select ENSP00000307599.3:n.1102-113C>G
ENST00000668754.1:c.1102-113C>G ENSP00000499569.1:n.1102-113C>G
ENST00000675223.1:c.1102-113C>G ENSP00000502481.1:n.1102-113C>G
ENST00000675672.1:c.1102-113C>G ENSP00000502446.1:n.1102-113C>G
ENST00000675892.1:c.922-113C>G ENSP00000502318.1:n.922-113C>G
ENST00000676045.1:c.1146-113C>G ENSP00000501685.1:n.1146-113C>G
ENST00000676176.1:c.1102-113C>G ENSP00000501891.1:n.1102-113C>G
ENST00000302328.7:c.1102-113C>G ENSP00000307599.3:n.1102-113C>G
ENST00000444237.2:c.1102-113C>G ENSP00000408028.2:n.1102-113C>G
ENST00000456224.7:c.1102-113C>G ENSP00000416757.3:n.1102-113C>G
NM_001287223.1:c.1102-113C>G NP_001274152.1:n.1102-113C>G
NM_014139.2:c.1102-113C>G NP_054858.2:n.1102-113C>G
XM_011533320.1:c.1102-113C>G XP_011531622.1:n.1102-113C>G
XM_011533321.1:c.439-113C>G XP_011531623.1:n.439-113C>G
NM_001349253.1:c.1102-113C>G NP_001336182.1:n.1102-113C>G
XM_011533321.2:c.439-113C>G XP_011531623.1:n.439-113C>G
XM_017005647.1:c.1477-113C>G XP_016861136.1:n.1477-113C>G
XM_017005648.1:c.1101+759C>G XP_016861137.1:n.1101+759C>G
XM_017005650.1:c.1102-113C>G XP_016861139.1:n.1102-113C>G
XM_017005651.1:c.829-113C>G XP_016861140.1:n.829-113C>G
XM_017005652.1:c.1102-113C>G XP_016861141.1:n.1102-113C>G
NM_001349253.2:c.1102-113C>G MANE Select NP_001336182.1:n.1102-113C>G
NM_014139.3:c.1102-113C>G NP_054858.2:n.1102-113C>G