Canonical Allele Identifier: CA433336079
Gene: SCN11A HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.38936225T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894734T>C , CM000665.2:g.38894734T>C GRCh38
NC_000003.11:g.38936225T>C , CM000665.1:g.38936225T>C GRCh37
NC_000003.10:g.38911229T>C NCBI36
NG_033859.1:g.60828A>G
NG_033859.2:g.162253A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.2634A>G MANE Select ENSP00000307599.3:p.Lys878=
ENST00000668754.1:c.2634A>G ENSP00000499569.1:p.Lys878=
ENST00000675223.1:c.2634A>G ENSP00000502481.1:p.Lys878=
ENST00000675672.1:c.2634A>G ENSP00000502446.1:p.Lys878=
ENST00000675892.1:c.2454A>G ENSP00000502318.1:p.Lys818=
ENST00000676045.1:c.2678A>G ENSP00000501685.1:n.2678A>G
ENST00000676176.1:c.2253A>G ENSP00000501891.1:p.Lys751=
ENST00000302328.7:c.2634A>G ENSP00000307599.3:p.Lys878=
ENST00000444237.2:c.2634A>G ENSP00000408028.2:p.Lys878=
ENST00000456224.7:c.2634A>G ENSP00000416757.3:p.Lys878=
NM_001287223.1:c.2634A>G NP_001274152.1:p.Lys878=
NM_014139.2:c.2634A>G NP_054858.2:p.Lys878=
XM_011533320.1:c.2634A>G XP_011531622.1:p.Lys878=
XM_011533321.1:c.1971A>G XP_011531623.1:p.Lys657=
XM_011533322.1:c.1182A>G XP_011531624.1:p.Lys394=
NM_001349253.1:c.2634A>G NP_001336182.1:p.Lys878=
XM_011533321.2:c.1971A>G XP_011531623.1:p.Lys657=
XM_017005647.1:c.3009A>G XP_016861136.1:p.Lys1003=
XM_017005648.1:c.2436A>G XP_016861137.1:p.Lys812=
XM_017005650.1:c.2634A>G XP_016861139.1:p.Lys878=
XM_017005651.1:c.2361A>G XP_016861140.1:p.Lys787=
XM_017005652.1:c.2634A>G XP_016861141.1:p.Lys878=
XM_017005653.1:c.1038A>G XP_016861142.1:p.Lys346=
NM_001349253.2:c.2634A>G MANE Select NP_001336182.1:p.Lys878=
NM_014139.3:c.2634A>G NP_054858.2:p.Lys878=