Canonical Allele Identifier: CA352174981

Gene: SCN11A

Linked Data

• dbSNP Id: rs749301699
• gnomAD v2: 3-38936347-G-C
• gnomAD v4: 3-38894856-G-C
• MyVariant Identifiers: chr3:g.38936347G>C (hg19) ; chr3:g.38894856G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894856G>C , CM000665.2:g.38894856G>C	GRCh38
NC_000003.11:g.38936347G>C , CM000665.1:g.38936347G>C	GRCh37
NC_000003.10:g.38911351G>C	NCBI36
NG_033859.1:g.60706C>G
NG_033859.2:g.162131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2512C>G MANE Select	ENSP00000307599.3:p.Arg838Gly
ENST00000668754.1:c.2512C>G	ENSP00000499569.1:p.Arg838Gly
ENST00000675223.1:c.2512C>G	ENSP00000502481.1:p.Arg838Gly
ENST00000675672.1:c.2512C>G	ENSP00000502446.1:p.Arg838Gly
ENST00000675892.1:c.2332C>G	ENSP00000502318.1:p.Arg778Gly
ENST00000676045.1:c.2556C>G	ENSP00000501685.1:n.2556C>G
ENST00000676176.1:c.2131C>G	ENSP00000501891.1:p.Arg711Gly
ENST00000302328.7:c.2512C>G	ENSP00000307599.3:p.Arg838Gly
ENST00000444237.2:c.2512C>G	ENSP00000408028.2:p.Arg838Gly
ENST00000456224.7:c.2512C>G	ENSP00000416757.3:p.Arg838Gly
NM_001287223.1:c.2512C>G	NP_001274152.1:p.Arg838Gly
NM_014139.2:c.2512C>G	NP_054858.2:p.Arg838Gly
XM_011533320.1:c.2512C>G	XP_011531622.1:p.Arg838Gly
XM_011533321.1:c.1849C>G	XP_011531623.1:p.Arg617Gly
XM_011533322.1:c.1060C>G	XP_011531624.1:p.Arg354Gly
NM_001349253.1:c.2512C>G	NP_001336182.1:p.Arg838Gly
XM_011533321.2:c.1849C>G	XP_011531623.1:p.Arg617Gly
XM_017005647.1:c.2887C>G	XP_016861136.1:p.Arg963Gly
XM_017005648.1:c.2314C>G	XP_016861137.1:p.Arg772Gly
XM_017005650.1:c.2512C>G	XP_016861139.1:p.Arg838Gly
XM_017005651.1:c.2239C>G	XP_016861140.1:p.Arg747Gly
XM_017005652.1:c.2512C>G	XP_016861141.1:p.Arg838Gly
XM_017005653.1:c.916C>G	XP_016861142.1:p.Arg306Gly
NM_001349253.2:c.2512C>G MANE Select	NP_001336182.1:p.Arg838Gly
NM_014139.3:c.2512C>G	NP_054858.2:p.Arg838Gly