Canonical Allele Identifier: CA72959010

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 1201052
• ClinVar RCV Id: RCV001566263
• dbSNP Id: rs192005503
• gnomAD v2: 3-38888085-G-T
• gnomAD v3: 3-38846594-G-T
• gnomAD v4: 3-38846594-G-T
• MyVariant Identifiers: chr3:g.38888085G>T (hg19) ; chr3:g.38846594G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38846594G>T , CM000665.2:g.38846594G>T	GRCh38
NC_000003.11:g.38888085G>T , CM000665.1:g.38888085G>T	GRCh37
NC_000003.10:g.38863089G>T	NCBI36
NG_033859.1:g.108968C>A
NG_033859.2:g.210393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.*100C>A MANE Select	ENSP00000307599.3:n.*100C>A
ENST00000668754.1:c.*100C>A	ENSP00000499569.1:n.*100C>A
ENST00000302328.7:c.*100C>A	ENSP00000307599.3:n.*100C>A
NM_001287223.1:c.*100C>A	NP_001274152.1:n.*100C>A
NM_014139.2:c.*100C>A	NP_054858.2:n.*100C>A
XM_011533320.1:c.*100C>A	XP_011531622.1:n.*100C>A
XM_011533321.1:c.*100C>A	XP_011531623.1:n.*100C>A
XM_011533322.1:c.*100C>A	XP_011531624.1:n.*100C>A
NM_001349253.1:c.*100C>A	NP_001336182.1:n.*100C>A
XM_011533321.2:c.*100C>A	XP_011531623.1:n.*100C>A
XM_017005647.1:c.*100C>A	XP_016861136.1:n.*100C>A
XM_017005648.1:c.*100C>A	XP_016861137.1:n.*100C>A
XM_017005650.1:c.*100C>A	XP_016861139.1:n.*100C>A
XM_017005651.1:c.*100C>A	XP_016861140.1:n.*100C>A
XM_017005653.1:c.*100C>A	XP_016861142.1:n.*100C>A
NM_001349253.2:c.*100C>A MANE Select	NP_001336182.1:n.*100C>A
NM_014139.3:c.*100C>A	NP_054858.2:n.*100C>A