Canonical Allele Identifier: CA433336087
Gene: SCN11A HGNC NCBI

Linked Data

dbSNP Id: rs2065563416
MyVariant Identifiers: chr3:g.38936234T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894743T>C , CM000665.2:g.38894743T>C GRCh38
NC_000003.11:g.38936234T>C , CM000665.1:g.38936234T>C GRCh37
NC_000003.10:g.38911238T>C NCBI36
NG_033859.1:g.60819A>G
NG_033859.2:g.162244A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.2625A>G MANE Select ENSP00000307599.3:p.Ala875=
ENST00000668754.1:c.2625A>G ENSP00000499569.1:p.Ala875=
ENST00000675223.1:c.2625A>G ENSP00000502481.1:p.Ala875=
ENST00000675672.1:c.2625A>G ENSP00000502446.1:p.Ala875=
ENST00000675892.1:c.2445A>G ENSP00000502318.1:p.Ala815=
ENST00000676045.1:c.2669A>G ENSP00000501685.1:n.2669A>G
ENST00000676176.1:c.2244A>G ENSP00000501891.1:p.Ala748=
ENST00000302328.7:c.2625A>G ENSP00000307599.3:p.Ala875=
ENST00000444237.2:c.2625A>G ENSP00000408028.2:p.Ala875=
ENST00000456224.7:c.2625A>G ENSP00000416757.3:p.Ala875=
NM_001287223.1:c.2625A>G NP_001274152.1:p.Ala875=
NM_014139.2:c.2625A>G NP_054858.2:p.Ala875=
XM_011533320.1:c.2625A>G XP_011531622.1:p.Ala875=
XM_011533321.1:c.1962A>G XP_011531623.1:p.Ala654=
XM_011533322.1:c.1173A>G XP_011531624.1:p.Ala391=
NM_001349253.1:c.2625A>G NP_001336182.1:p.Ala875=
XM_011533321.2:c.1962A>G XP_011531623.1:p.Ala654=
XM_017005647.1:c.3000A>G XP_016861136.1:p.Ala1000=
XM_017005648.1:c.2427A>G XP_016861137.1:p.Ala809=
XM_017005650.1:c.2625A>G XP_016861139.1:p.Ala875=
XM_017005651.1:c.2352A>G XP_016861140.1:p.Ala784=
XM_017005652.1:c.2625A>G XP_016861141.1:p.Ala875=
XM_017005653.1:c.1029A>G XP_016861142.1:p.Ala343=
NM_001349253.2:c.2625A>G MANE Select NP_001336182.1:p.Ala875=
NM_014139.3:c.2625A>G NP_054858.2:p.Ala875=