Canonical Allele Identifier: CA72980428

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 648481
• ClinVar RCV Id: RCV000803225
• dbSNP Id: rs951508265
• gnomAD v2: 3-38913730-C-A
• gnomAD v3: 3-38872239-C-A
• gnomAD v4: 3-38872239-C-A
• MyVariant Identifiers: chr3:g.38913730C>A (hg19) ; chr3:g.38872239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38872239C>A , CM000665.2:g.38872239C>A	GRCh38
NC_000003.11:g.38913730C>A , CM000665.1:g.38913730C>A	GRCh37
NC_000003.10:g.38888734C>A	NCBI36
NG_033859.1:g.83323G>T
NG_033859.2:g.184748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.3449G>T MANE Select	ENSP00000307599.3:p.Arg1150Leu
ENST00000668754.1:c.3449G>T	ENSP00000499569.1:p.Arg1150Leu
ENST00000675223.1:c.3449G>T	ENSP00000502481.1:p.Arg1150Leu
ENST00000675672.1:c.3503G>T	ENSP00000502446.1:n.3503G>T
ENST00000675892.1:c.3269G>T	ENSP00000502318.1:p.Arg1090Leu
ENST00000676045.1:c.3493G>T	ENSP00000501685.1:n.3493G>T
ENST00000676176.1:c.3068G>T	ENSP00000501891.1:p.Arg1023Leu
ENST00000302328.7:c.3449G>T	ENSP00000307599.3:p.Arg1150Leu
ENST00000444237.2:c.3449G>T	ENSP00000408028.2:p.Arg1150Leu
ENST00000456224.7:c.3335G>T	ENSP00000416757.3:p.Arg1112Leu
NM_001287223.1:c.3449G>T	NP_001274152.1:p.Arg1150Leu
NM_014139.2:c.3449G>T	NP_054858.2:p.Arg1150Leu
XM_011533320.1:c.3449G>T	XP_011531622.1:p.Arg1150Leu
XM_011533321.1:c.2786G>T	XP_011531623.1:p.Arg929Leu
XM_011533322.1:c.1997G>T	XP_011531624.1:p.Arg666Leu
NM_001349253.1:c.3449G>T	NP_001336182.1:p.Arg1150Leu
XM_011533321.2:c.2786G>T	XP_011531623.1:p.Arg929Leu
XM_017005647.1:c.3824G>T	XP_016861136.1:p.Arg1275Leu
XM_017005648.1:c.3251G>T	XP_016861137.1:p.Arg1084Leu
XM_017005650.1:c.3449G>T	XP_016861139.1:p.Arg1150Leu
XM_017005651.1:c.3176G>T	XP_016861140.1:p.Arg1059Leu
XM_017005652.1:c.3449G>T	XP_016861141.1:p.Arg1150Leu
XM_017005653.1:c.1853G>T	XP_016861142.1:p.Arg618Leu
NM_001349253.2:c.3449G>T MANE Select	NP_001336182.1:p.Arg1150Leu
NM_014139.3:c.3449G>T	NP_054858.2:p.Arg1150Leu