Canonical Allele Identifier: CA352174999

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 2922675
• ClinVar RCV Id: RCV003787841
• dbSNP Id: rs1356102739
• gnomAD v2: 3-38936356-C-A
• gnomAD v4: 3-38894865-C-A
• MyVariant Identifiers: chr3:g.38936356C>A (hg19) ; chr3:g.38894865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894865C>A , CM000665.2:g.38894865C>A	GRCh38
NC_000003.11:g.38936356C>A , CM000665.1:g.38936356C>A	GRCh37
NC_000003.10:g.38911360C>A	NCBI36
NG_033859.1:g.60697G>T
NG_033859.2:g.162122G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2503G>T MANE Select	ENSP00000307599.3:p.Ala835Ser
ENST00000668754.1:c.2503G>T	ENSP00000499569.1:p.Ala835Ser
ENST00000675223.1:c.2503G>T	ENSP00000502481.1:p.Ala835Ser
ENST00000675672.1:c.2503G>T	ENSP00000502446.1:p.Ala835Ser
ENST00000675892.1:c.2323G>T	ENSP00000502318.1:p.Ala775Ser
ENST00000676045.1:c.2547G>T	ENSP00000501685.1:n.2547G>T
ENST00000676176.1:c.2122G>T	ENSP00000501891.1:p.Ala708Ser
ENST00000302328.7:c.2503G>T	ENSP00000307599.3:p.Ala835Ser
ENST00000444237.2:c.2503G>T	ENSP00000408028.2:p.Ala835Ser
ENST00000456224.7:c.2503G>T	ENSP00000416757.3:p.Ala835Ser
NM_001287223.1:c.2503G>T	NP_001274152.1:p.Ala835Ser
NM_014139.2:c.2503G>T	NP_054858.2:p.Ala835Ser
XM_011533320.1:c.2503G>T	XP_011531622.1:p.Ala835Ser
XM_011533321.1:c.1840G>T	XP_011531623.1:p.Ala614Ser
XM_011533322.1:c.1051G>T	XP_011531624.1:p.Ala351Ser
NM_001349253.1:c.2503G>T	NP_001336182.1:p.Ala835Ser
XM_011533321.2:c.1840G>T	XP_011531623.1:p.Ala614Ser
XM_017005647.1:c.2878G>T	XP_016861136.1:p.Ala960Ser
XM_017005648.1:c.2305G>T	XP_016861137.1:p.Ala769Ser
XM_017005650.1:c.2503G>T	XP_016861139.1:p.Ala835Ser
XM_017005651.1:c.2230G>T	XP_016861140.1:p.Ala744Ser
XM_017005652.1:c.2503G>T	XP_016861141.1:p.Ala835Ser
XM_017005653.1:c.907G>T	XP_016861142.1:p.Ala303Ser
NM_001349253.2:c.2503G>T MANE Select	NP_001336182.1:p.Ala835Ser
NM_014139.3:c.2503G>T	NP_054858.2:p.Ala835Ser