Canonical Allele Identifier: CA352171304

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38913710C>A (hg19) ; chr3:g.38872219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872219C>A , CM000665.2:g.38872219C>A	GRCh38
NC_000003.11:g.38913710C>A , CM000665.1:g.38913710C>A	GRCh37
NC_000003.10:g.38888714C>A	NCBI36
NG_033859.1:g.83343G>T
NG_033859.2:g.184768G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.3469G>T MANE Select	ENSP00000307599.3:p.Ala1157Ser
ENST00000668754.1:c.3469G>T	ENSP00000499569.1:p.Ala1157Ser
ENST00000675223.1:c.3469G>T	ENSP00000502481.1:p.Ala1157Ser
ENST00000675672.1:c.3523G>T	ENSP00000502446.1:n.3523G>T
ENST00000675892.1:c.3289G>T	ENSP00000502318.1:p.Ala1097Ser
ENST00000676045.1:c.3513G>T	ENSP00000501685.1:n.3513G>T
ENST00000676176.1:c.3088G>T	ENSP00000501891.1:p.Ala1030Ser
ENST00000302328.7:c.3469G>T	ENSP00000307599.3:p.Ala1157Ser
ENST00000444237.2:c.3469G>T	ENSP00000408028.2:p.Ala1157Ser
ENST00000456224.7:c.3355G>T	ENSP00000416757.3:p.Ala1119Ser
NM_001287223.1:c.3469G>T	NP_001274152.1:p.Ala1157Ser
NM_014139.2:c.3469G>T	NP_054858.2:p.Ala1157Ser
XM_011533320.1:c.3469G>T	XP_011531622.1:p.Ala1157Ser
XM_011533321.1:c.2806G>T	XP_011531623.1:p.Ala936Ser
XM_011533322.1:c.2017G>T	XP_011531624.1:p.Ala673Ser
NM_001349253.1:c.3469G>T	NP_001336182.1:p.Ala1157Ser
XM_011533321.2:c.2806G>T	XP_011531623.1:p.Ala936Ser
XM_017005647.1:c.3844G>T	XP_016861136.1:p.Ala1282Ser
XM_017005648.1:c.3271G>T	XP_016861137.1:p.Ala1091Ser
XM_017005650.1:c.3469G>T	XP_016861139.1:p.Ala1157Ser
XM_017005651.1:c.3196G>T	XP_016861140.1:p.Ala1066Ser
XM_017005652.1:c.3469G>T	XP_016861141.1:p.Ala1157Ser
XM_017005653.1:c.1873G>T	XP_016861142.1:p.Ala625Ser
NM_001349253.2:c.3469G>T MANE Select	NP_001336182.1:p.Ala1157Ser
NM_014139.3:c.3469G>T	NP_054858.2:p.Ala1157Ser