Canonical Allele Identifier: CA352164656

Gene: SCN11A

Linked Data

• MyVariant Identifiers: chr3:g.38945486C>A (hg19) ; chr3:g.38903995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38903995C>A , CM000665.2:g.38903995C>A	GRCh38
NC_000003.11:g.38945486C>A , CM000665.1:g.38945486C>A	GRCh37
NC_000003.10:g.38920490C>A	NCBI36
NG_033859.1:g.51567G>T
NG_033859.2:g.152992G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.1712G>T MANE Select	ENSP00000307599.3:p.Arg571Ile
ENST00000668754.1:c.1712G>T	ENSP00000499569.1:p.Arg571Ile
ENST00000675223.1:c.1712G>T	ENSP00000502481.1:p.Arg571Ile
ENST00000675672.1:c.1712G>T	ENSP00000502446.1:p.Arg571Ile
ENST00000675892.1:c.1532G>T	ENSP00000502318.1:p.Arg511Ile
ENST00000676045.1:c.1756G>T	ENSP00000501685.1:n.1756G>T
ENST00000676176.1:c.1712G>T	ENSP00000501891.1:p.Arg571Ile
ENST00000302328.7:c.1712G>T	ENSP00000307599.3:p.Arg571Ile
ENST00000444237.2:c.1712G>T	ENSP00000408028.2:p.Arg571Ile
ENST00000456224.7:c.1712G>T	ENSP00000416757.3:p.Arg571Ile
NM_001287223.1:c.1712G>T	NP_001274152.1:p.Arg571Ile
NM_014139.2:c.1712G>T	NP_054858.2:p.Arg571Ile
XM_011533320.1:c.1712G>T	XP_011531622.1:p.Arg571Ile
XM_011533321.1:c.1049G>T	XP_011531623.1:p.Arg350Ile
XM_011533322.1:c.260G>T	XP_011531624.1:p.Arg87Ile
NM_001349253.1:c.1712G>T	NP_001336182.1:p.Arg571Ile
XM_011533321.2:c.1049G>T	XP_011531623.1:p.Arg350Ile
XM_017005647.1:c.2087G>T	XP_016861136.1:p.Arg696Ile
XM_017005648.1:c.1514G>T	XP_016861137.1:p.Arg505Ile
XM_017005650.1:c.1712G>T	XP_016861139.1:p.Arg571Ile
XM_017005651.1:c.1439G>T	XP_016861140.1:p.Arg480Ile
XM_017005652.1:c.1712G>T	XP_016861141.1:p.Arg571Ile
XM_017005653.1:c.116G>T	XP_016861142.1:p.Arg39Ile
NM_001349253.2:c.1712G>T MANE Select	NP_001336182.1:p.Arg571Ile
NM_014139.3:c.1712G>T	NP_054858.2:p.Arg571Ile