Canonical Allele Identifier: CA72997975

Gene: SCN11A

Linked Data

• ClinVar Variation Id: 1463207
• ClinVar RCV Id: RCV001960932 ; RCV004044488
• dbSNP Id: rs964158614
• gnomAD v2: 3-38936461-A-G
• gnomAD v3: 3-38894970-A-G
• gnomAD v4: 3-38894970-A-G
• MyVariant Identifiers: chr3:g.38936461A>G (hg19) ; chr3:g.38894970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894970A>G , CM000665.2:g.38894970A>G	GRCh38
NC_000003.11:g.38936461A>G , CM000665.1:g.38936461A>G	GRCh37
NC_000003.10:g.38911465A>G	NCBI36
NG_033859.1:g.60592T>C
NG_033859.2:g.162017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2404-6T>C MANE Select	ENSP00000307599.3:n.2404-6T>C
ENST00000668754.1:c.2404-6T>C	ENSP00000499569.1:n.2404-6T>C
ENST00000675223.1:c.2404-6T>C	ENSP00000502481.1:n.2404-6T>C
ENST00000675672.1:c.2404-6T>C	ENSP00000502446.1:n.2404-6T>C
ENST00000675892.1:c.2224-6T>C	ENSP00000502318.1:n.2224-6T>C
ENST00000676045.1:c.2448-6T>C	ENSP00000501685.1:n.2448-6T>C
ENST00000676176.1:c.2023-6T>C	ENSP00000501891.1:n.2023-6T>C
ENST00000302328.7:c.2404-6T>C	ENSP00000307599.3:n.2404-6T>C
ENST00000444237.2:c.2404-6T>C	ENSP00000408028.2:n.2404-6T>C
ENST00000456224.7:c.2404-6T>C	ENSP00000416757.3:n.2404-6T>C
NM_001287223.1:c.2404-6T>C	NP_001274152.1:n.2404-6T>C
NM_014139.2:c.2404-6T>C	NP_054858.2:n.2404-6T>C
XM_011533320.1:c.2404-6T>C	XP_011531622.1:n.2404-6T>C
XM_011533321.1:c.1741-6T>C	XP_011531623.1:n.1741-6T>C
XM_011533322.1:c.952-6T>C	XP_011531624.1:n.952-6T>C
NM_001349253.1:c.2404-6T>C	NP_001336182.1:n.2404-6T>C
XM_011533321.2:c.1741-6T>C	XP_011531623.1:n.1741-6T>C
XM_017005647.1:c.2779-6T>C	XP_016861136.1:n.2779-6T>C
XM_017005648.1:c.2206-6T>C	XP_016861137.1:n.2206-6T>C
XM_017005650.1:c.2404-6T>C	XP_016861139.1:n.2404-6T>C
XM_017005651.1:c.2131-6T>C	XP_016861140.1:n.2131-6T>C
XM_017005652.1:c.2404-6T>C	XP_016861141.1:n.2404-6T>C
XM_017005653.1:c.808-6T>C	XP_016861142.1:n.808-6T>C
NM_001349253.2:c.2404-6T>C MANE Select	NP_001336182.1:n.2404-6T>C
NM_014139.3:c.2404-6T>C	NP_054858.2:n.2404-6T>C