Canonical Allele Identifier: CA352168314

Gene: SCN11A

Linked Data

• gnomAD v4: 3-38909172-T-G
• MyVariant Identifiers: chr3:g.38950663T>G (hg19) ; chr3:g.38909172T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38909172T>G , CM000665.2:g.38909172T>G	GRCh38
NC_000003.11:g.38950663T>G , CM000665.1:g.38950663T>G	GRCh37
NC_000003.10:g.38925667T>G	NCBI36
NG_033859.1:g.46390A>C
NG_033859.2:g.147815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.1124A>C MANE Select	ENSP00000307599.3:p.Tyr375Ser
ENST00000668754.1:c.1124A>C	ENSP00000499569.1:p.Tyr375Ser
ENST00000675223.1:c.1124A>C	ENSP00000502481.1:p.Tyr375Ser
ENST00000675672.1:c.1124A>C	ENSP00000502446.1:p.Tyr375Ser
ENST00000675892.1:c.944A>C	ENSP00000502318.1:p.Tyr315Ser
ENST00000676045.1:c.1168A>C	ENSP00000501685.1:n.1168A>C
ENST00000676176.1:c.1124A>C	ENSP00000501891.1:p.Tyr375Ser
ENST00000302328.7:c.1124A>C	ENSP00000307599.3:p.Tyr375Ser
ENST00000444237.2:c.1124A>C	ENSP00000408028.2:p.Tyr375Ser
ENST00000456224.7:c.1124A>C	ENSP00000416757.3:p.Tyr375Ser
NM_001287223.1:c.1124A>C	NP_001274152.1:p.Tyr375Ser
NM_014139.2:c.1124A>C	NP_054858.2:p.Tyr375Ser
XM_011533320.1:c.1124A>C	XP_011531622.1:p.Tyr375Ser
XM_011533321.1:c.461A>C	XP_011531623.1:p.Tyr154Ser
NM_001349253.1:c.1124A>C	NP_001336182.1:p.Tyr375Ser
XM_011533321.2:c.461A>C	XP_011531623.1:p.Tyr154Ser
XM_017005647.1:c.1499A>C	XP_016861136.1:p.Tyr500Ser
XM_017005648.1:c.1101+894A>C	XP_016861137.1:n.1101+894A>C
XM_017005650.1:c.1124A>C	XP_016861139.1:p.Tyr375Ser
XM_017005651.1:c.851A>C	XP_016861140.1:p.Tyr284Ser
XM_017005652.1:c.1124A>C	XP_016861141.1:p.Tyr375Ser
NM_001349253.2:c.1124A>C MANE Select	NP_001336182.1:p.Tyr375Ser
NM_014139.3:c.1124A>C	NP_054858.2:p.Tyr375Ser