Canonical Allele Identifier: CA2322023

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 660238
• ClinVar RCV Id: RCV000817392 ; RCV002508265 ; RCV002537421
• dbSNP Id: rs184088468
• ExAC: 3:38936338 G / A
• gnomAD v2: 3-38936338-G-A
• gnomAD v3: 3-38894847-G-A
• gnomAD v4: 3-38894847-G-A
• MyVariant Identifiers: chr3:g.38936338G>A (hg19) ; chr3:g.38894847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894847G>A , CM000665.2:g.38894847G>A	GRCh38
NC_000003.11:g.38936338G>A , CM000665.1:g.38936338G>A	GRCh37
NC_000003.10:g.38911342G>A	NCBI36
NG_033859.1:g.60715C>T
NG_033859.2:g.162140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2521C>T MANE Select	ENSP00000307599.3:p.Arg841Trp
ENST00000668754.1:c.2521C>T	ENSP00000499569.1:p.Arg841Trp
ENST00000675223.1:c.2521C>T	ENSP00000502481.1:p.Arg841Trp
ENST00000675672.1:c.2521C>T	ENSP00000502446.1:p.Arg841Trp
ENST00000675892.1:c.2341C>T	ENSP00000502318.1:p.Arg781Trp
ENST00000676045.1:c.2565C>T	ENSP00000501685.1:n.2565C>T
ENST00000676176.1:c.2140C>T	ENSP00000501891.1:p.Arg714Trp
ENST00000302328.7:c.2521C>T	ENSP00000307599.3:p.Arg841Trp
ENST00000444237.2:c.2521C>T	ENSP00000408028.2:p.Arg841Trp
ENST00000456224.7:c.2521C>T	ENSP00000416757.3:p.Arg841Trp
NM_001287223.1:c.2521C>T	NP_001274152.1:p.Arg841Trp
NM_014139.2:c.2521C>T	NP_054858.2:p.Arg841Trp
XM_011533320.1:c.2521C>T	XP_011531622.1:p.Arg841Trp
XM_011533321.1:c.1858C>T	XP_011531623.1:p.Arg620Trp
XM_011533322.1:c.1069C>T	XP_011531624.1:p.Arg357Trp
NM_001349253.1:c.2521C>T	NP_001336182.1:p.Arg841Trp
XM_011533321.2:c.1858C>T	XP_011531623.1:p.Arg620Trp
XM_017005647.1:c.2896C>T	XP_016861136.1:p.Arg966Trp
XM_017005648.1:c.2323C>T	XP_016861137.1:p.Arg775Trp
XM_017005650.1:c.2521C>T	XP_016861139.1:p.Arg841Trp
XM_017005651.1:c.2248C>T	XP_016861140.1:p.Arg750Trp
XM_017005652.1:c.2521C>T	XP_016861141.1:p.Arg841Trp
XM_017005653.1:c.925C>T	XP_016861142.1:p.Arg309Trp
NM_001349253.2:c.2521C>T MANE Select	NP_001336182.1:p.Arg841Trp
NM_014139.3:c.2521C>T	NP_054858.2:p.Arg841Trp