Canonical Allele Identifier: CA1047033649

Gene: SCN11A

Linked Data

• dbSNP Id: rs2031789510
• gnomAD v3: 3-39032631-G-A
• gnomAD v4: 3-39032631-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032631G>A , CM000665.2:g.39032631G>A	GRCh38
NC_000003.11:g.39074122G>A , CM000665.1:g.39074122G>A	GRCh37
NC_000003.10:g.39049126G>A	NCBI36
NG_033859.2:g.24356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-128C>T MANE Select	ENSP00000307599.3:n.-403-128C>T
ENST00000665106.1:n.82-128C>T
ENST00000668754.1:c.-903-128C>T	ENSP00000499569.1:n.-903-128C>T
ENST00000674755.1:n.233-128C>T
ENST00000675269.1:n.125-128C>T
ENST00000676333.1:n.39-128C>T
XM_011534335.1:c.49-128C>T	XP_011532637.1:n.49-128C>T
XM_011534336.1:c.49-128C>T	XP_011532638.1:n.49-128C>T
XR_940736.1:n.79-128C>T
XR_940737.1:n.79-128C>T
XR_940738.1:n.79-128C>T
XR_940739.1:n.79-128C>T
NM_001349253.1:c.-403-128C>T	NP_001336182.1:n.-403-128C>T
NM_001349253.2:c.-403-128C>T MANE Select	NP_001336182.1:n.-403-128C>T
NR_164473.1:n.85-128C>T