Canonical Allele Identifier: CA1047033647

Gene: SCN11A

Linked Data

• dbSNP Id: rs2031789453
• gnomAD v3: 3-39032630-A-C
• gnomAD v4: 3-39032630-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032630A>C , CM000665.2:g.39032630A>C	GRCh38
NC_000003.11:g.39074121A>C , CM000665.1:g.39074121A>C	GRCh37
NC_000003.10:g.39049125A>C	NCBI36
NG_033859.2:g.24357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-127T>G MANE Select	ENSP00000307599.3:n.-403-127T>G
ENST00000665106.1:n.82-127T>G
ENST00000668754.1:c.-903-127T>G	ENSP00000499569.1:n.-903-127T>G
ENST00000674755.1:n.233-127T>G
ENST00000675269.1:n.125-127T>G
ENST00000676333.1:n.39-127T>G
XM_011534335.1:c.49-127T>G	XP_011532637.1:n.49-127T>G
XM_011534336.1:c.49-127T>G	XP_011532638.1:n.49-127T>G
XR_940736.1:n.79-127T>G
XR_940737.1:n.79-127T>G
XR_940738.1:n.79-127T>G
XR_940739.1:n.79-127T>G
NM_001349253.1:c.-403-127T>G	NP_001336182.1:n.-403-127T>G
NM_001349253.2:c.-403-127T>G MANE Select	NP_001336182.1:n.-403-127T>G
NR_164473.1:n.85-127T>G