Canonical Allele Identifier: CA352174752

Gene: SCN11A

Linked Data

• dbSNP Id: rs1460958561
• gnomAD v2: 3-38936245-C-A
• gnomAD v3: 3-38894754-C-A
• gnomAD v4: 3-38894754-C-A
• MyVariant Identifiers: chr3:g.38936245C>A (hg19) ; chr3:g.38894754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894754C>A , CM000665.2:g.38894754C>A	GRCh38
NC_000003.11:g.38936245C>A , CM000665.1:g.38936245C>A	GRCh37
NC_000003.10:g.38911249C>A	NCBI36
NG_033859.1:g.60808G>T
NG_033859.2:g.162233G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.2614G>T MANE Select	ENSP00000307599.3:p.Gly872Cys
ENST00000668754.1:c.2614G>T	ENSP00000499569.1:p.Gly872Cys
ENST00000675223.1:c.2614G>T	ENSP00000502481.1:p.Gly872Cys
ENST00000675672.1:c.2614G>T	ENSP00000502446.1:p.Gly872Cys
ENST00000675892.1:c.2434G>T	ENSP00000502318.1:p.Gly812Cys
ENST00000676045.1:c.2658G>T	ENSP00000501685.1:n.2658G>T
ENST00000676176.1:c.2233G>T	ENSP00000501891.1:p.Gly745Cys
ENST00000302328.7:c.2614G>T	ENSP00000307599.3:p.Gly872Cys
ENST00000444237.2:c.2614G>T	ENSP00000408028.2:p.Gly872Cys
ENST00000456224.7:c.2614G>T	ENSP00000416757.3:p.Gly872Cys
NM_001287223.1:c.2614G>T	NP_001274152.1:p.Gly872Cys
NM_014139.2:c.2614G>T	NP_054858.2:p.Gly872Cys
XM_011533320.1:c.2614G>T	XP_011531622.1:p.Gly872Cys
XM_011533321.1:c.1951G>T	XP_011531623.1:p.Gly651Cys
XM_011533322.1:c.1162G>T	XP_011531624.1:p.Gly388Cys
NM_001349253.1:c.2614G>T	NP_001336182.1:p.Gly872Cys
XM_011533321.2:c.1951G>T	XP_011531623.1:p.Gly651Cys
XM_017005647.1:c.2989G>T	XP_016861136.1:p.Gly997Cys
XM_017005648.1:c.2416G>T	XP_016861137.1:p.Gly806Cys
XM_017005650.1:c.2614G>T	XP_016861139.1:p.Gly872Cys
XM_017005651.1:c.2341G>T	XP_016861140.1:p.Gly781Cys
XM_017005652.1:c.2614G>T	XP_016861141.1:p.Gly872Cys
XM_017005653.1:c.1018G>T	XP_016861142.1:p.Gly340Cys
NM_001349253.2:c.2614G>T MANE Select	NP_001336182.1:p.Gly872Cys
NM_014139.3:c.2614G>T	NP_054858.2:p.Gly872Cys