Canonical Allele Identifier: CA352174963

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 637859
• ClinVar RCV Id: RCV000790197
• dbSNP Id: rs1373209779
• gnomAD v2: 3-38936335-C-G
• gnomAD v4: 3-38894844-C-G
• MyVariant Identifiers: chr3:g.38936335C>G (hg19) ; chr3:g.38894844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894844C>G , CM000665.2:g.38894844C>G	GRCh38
NC_000003.11:g.38936335C>G , CM000665.1:g.38936335C>G	GRCh37
NC_000003.10:g.38911339C>G	NCBI36
NG_033859.1:g.60718G>C
NG_033859.2:g.162143G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2524G>C MANE Select	ENSP00000307599.3:p.Ala842Pro
ENST00000668754.1:c.2524G>C	ENSP00000499569.1:p.Ala842Pro
ENST00000675223.1:c.2524G>C	ENSP00000502481.1:p.Ala842Pro
ENST00000675672.1:c.2524G>C	ENSP00000502446.1:p.Ala842Pro
ENST00000675892.1:c.2344G>C	ENSP00000502318.1:p.Ala782Pro
ENST00000676045.1:c.2568G>C	ENSP00000501685.1:n.2568G>C
ENST00000676176.1:c.2143G>C	ENSP00000501891.1:p.Ala715Pro
ENST00000302328.7:c.2524G>C	ENSP00000307599.3:p.Ala842Pro
ENST00000444237.2:c.2524G>C	ENSP00000408028.2:p.Ala842Pro
ENST00000456224.7:c.2524G>C	ENSP00000416757.3:p.Ala842Pro
NM_001287223.1:c.2524G>C	NP_001274152.1:p.Ala842Pro
NM_014139.2:c.2524G>C	NP_054858.2:p.Ala842Pro
XM_011533320.1:c.2524G>C	XP_011531622.1:p.Ala842Pro
XM_011533321.1:c.1861G>C	XP_011531623.1:p.Ala621Pro
XM_011533322.1:c.1072G>C	XP_011531624.1:p.Ala358Pro
NM_001349253.1:c.2524G>C	NP_001336182.1:p.Ala842Pro
XM_011533321.2:c.1861G>C	XP_011531623.1:p.Ala621Pro
XM_017005647.1:c.2899G>C	XP_016861136.1:p.Ala967Pro
XM_017005648.1:c.2326G>C	XP_016861137.1:p.Ala776Pro
XM_017005650.1:c.2524G>C	XP_016861139.1:p.Ala842Pro
XM_017005651.1:c.2251G>C	XP_016861140.1:p.Ala751Pro
XM_017005652.1:c.2524G>C	XP_016861141.1:p.Ala842Pro
XM_017005653.1:c.928G>C	XP_016861142.1:p.Ala310Pro
NM_001349253.2:c.2524G>C MANE Select	NP_001336182.1:p.Ala842Pro
NM_014139.3:c.2524G>C	NP_054858.2:p.Ala842Pro