Canonical Allele Identifier: CA2321783

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 1706348
• ClinVar RCV Id: RCV002284878 ; RCV003097680
• dbSNP Id: rs750275701
• ExAC: 3:38913727 G / A
• gnomAD v2: 3-38913727-G-A
• gnomAD v4: 3-38872236-G-A
• MyVariant Identifiers: chr3:g.38913727G>A (hg19) ; chr3:g.38872236G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872236G>A , CM000665.2:g.38872236G>A	GRCh38
NC_000003.11:g.38913727G>A , CM000665.1:g.38913727G>A	GRCh37
NC_000003.10:g.38888731G>A	NCBI36
NG_033859.1:g.83326C>T
NG_033859.2:g.184751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3452C>T MANE Select	ENSP00000307599.3:p.Ala1151Val
ENST00000668754.1:c.3452C>T	ENSP00000499569.1:p.Ala1151Val
ENST00000675223.1:c.3452C>T	ENSP00000502481.1:p.Ala1151Val
ENST00000675672.1:c.3506C>T	ENSP00000502446.1:n.3506C>T
ENST00000675892.1:c.3272C>T	ENSP00000502318.1:p.Ala1091Val
ENST00000676045.1:c.3496C>T	ENSP00000501685.1:n.3496C>T
ENST00000676176.1:c.3071C>T	ENSP00000501891.1:p.Ala1024Val
ENST00000302328.7:c.3452C>T	ENSP00000307599.3:p.Ala1151Val
ENST00000444237.2:c.3452C>T	ENSP00000408028.2:p.Ala1151Val
ENST00000456224.7:c.3338C>T	ENSP00000416757.3:p.Ala1113Val
NM_001287223.1:c.3452C>T	NP_001274152.1:p.Ala1151Val
NM_014139.2:c.3452C>T	NP_054858.2:p.Ala1151Val
XM_011533320.1:c.3452C>T	XP_011531622.1:p.Ala1151Val
XM_011533321.1:c.2789C>T	XP_011531623.1:p.Ala930Val
XM_011533322.1:c.2000C>T	XP_011531624.1:p.Ala667Val
NM_001349253.1:c.3452C>T	NP_001336182.1:p.Ala1151Val
XM_011533321.2:c.2789C>T	XP_011531623.1:p.Ala930Val
XM_017005647.1:c.3827C>T	XP_016861136.1:p.Ala1276Val
XM_017005648.1:c.3254C>T	XP_016861137.1:p.Ala1085Val
XM_017005650.1:c.3452C>T	XP_016861139.1:p.Ala1151Val
XM_017005651.1:c.3179C>T	XP_016861140.1:p.Ala1060Val
XM_017005652.1:c.3452C>T	XP_016861141.1:p.Ala1151Val
XM_017005653.1:c.1856C>T	XP_016861142.1:p.Ala619Val
NM_001349253.2:c.3452C>T MANE Select	NP_001336182.1:p.Ala1151Val
NM_014139.3:c.3452C>T	NP_054858.2:p.Ala1151Val