Canonical Allele Identifier: CA2322022

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 571780
• ClinVar RCV Id: RCV000693016
• dbSNP Id: rs779067124
• ExAC: 3:38936337 C / T
• gnomAD v2: 3-38936337-C-T
• gnomAD v3: 3-38894846-C-T
• gnomAD v4: 3-38894846-C-T
• MyVariant Identifiers: chr3:g.38936337C>T (hg19) ; chr3:g.38894846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894846C>T , CM000665.2:g.38894846C>T	GRCh38
NC_000003.11:g.38936337C>T , CM000665.1:g.38936337C>T	GRCh37
NC_000003.10:g.38911341C>T	NCBI36
NG_033859.1:g.60716G>A
NG_033859.2:g.162141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2522G>A MANE Select	ENSP00000307599.3:p.Arg841Gln
ENST00000668754.1:c.2522G>A	ENSP00000499569.1:p.Arg841Gln
ENST00000675223.1:c.2522G>A	ENSP00000502481.1:p.Arg841Gln
ENST00000675672.1:c.2522G>A	ENSP00000502446.1:p.Arg841Gln
ENST00000675892.1:c.2342G>A	ENSP00000502318.1:p.Arg781Gln
ENST00000676045.1:c.2566G>A	ENSP00000501685.1:n.2566G>A
ENST00000676176.1:c.2141G>A	ENSP00000501891.1:p.Arg714Gln
ENST00000302328.7:c.2522G>A	ENSP00000307599.3:p.Arg841Gln
ENST00000444237.2:c.2522G>A	ENSP00000408028.2:p.Arg841Gln
ENST00000456224.7:c.2522G>A	ENSP00000416757.3:p.Arg841Gln
NM_001287223.1:c.2522G>A	NP_001274152.1:p.Arg841Gln
NM_014139.2:c.2522G>A	NP_054858.2:p.Arg841Gln
XM_011533320.1:c.2522G>A	XP_011531622.1:p.Arg841Gln
XM_011533321.1:c.1859G>A	XP_011531623.1:p.Arg620Gln
XM_011533322.1:c.1070G>A	XP_011531624.1:p.Arg357Gln
NM_001349253.1:c.2522G>A	NP_001336182.1:p.Arg841Gln
XM_011533321.2:c.1859G>A	XP_011531623.1:p.Arg620Gln
XM_017005647.1:c.2897G>A	XP_016861136.1:p.Arg966Gln
XM_017005648.1:c.2324G>A	XP_016861137.1:p.Arg775Gln
XM_017005650.1:c.2522G>A	XP_016861139.1:p.Arg841Gln
XM_017005651.1:c.2249G>A	XP_016861140.1:p.Arg750Gln
XM_017005652.1:c.2522G>A	XP_016861141.1:p.Arg841Gln
XM_017005653.1:c.926G>A	XP_016861142.1:p.Arg309Gln
NM_001349253.2:c.2522G>A MANE Select	NP_001336182.1:p.Arg841Gln
NM_014139.3:c.2522G>A	NP_054858.2:p.Arg841Gln