Canonical Allele Identifier: CA1047033617

Gene: SCN11A

Linked Data

• dbSNP Id: rs2031788710
• gnomAD v3: 3-39032595-C-A
• gnomAD v4: 3-39032595-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032595C>A , CM000665.2:g.39032595C>A	GRCh38
NC_000003.11:g.39074086C>A , CM000665.1:g.39074086C>A	GRCh37
NC_000003.10:g.39049090C>A	NCBI36
NG_033859.2:g.24392G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302328.9:c.-403-92G>T MANE Select	ENSP00000307599.3:n.-403-92G>T
ENST00000665106.1:n.82-92G>T
ENST00000668754.1:c.-903-92G>T	ENSP00000499569.1:n.-903-92G>T
ENST00000674755.1:n.233-92G>T
ENST00000675269.1:n.125-92G>T
ENST00000676333.1:n.39-92G>T
XM_011534335.1:c.49-92G>T	XP_011532637.1:n.49-92G>T
XM_011534336.1:c.49-92G>T	XP_011532638.1:n.49-92G>T
XR_940736.1:n.79-92G>T
XR_940737.1:n.79-92G>T
XR_940738.1:n.79-92G>T
XR_940739.1:n.79-92G>T
NM_001349253.1:c.-403-92G>T	NP_001336182.1:n.-403-92G>T
NM_001349253.2:c.-403-92G>T MANE Select	NP_001336182.1:n.-403-92G>T
NR_164473.1:n.85-92G>T