Canonical Allele Identifier: CA1047033644

Gene: SCN11A

Linked Data

• dbSNP Id: rs2031789407
• gnomAD v3: 3-39032626-A-T
• gnomAD v4: 3-39032626-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032626A>T , CM000665.2:g.39032626A>T	GRCh38
NC_000003.11:g.39074117A>T , CM000665.1:g.39074117A>T	GRCh37
NC_000003.10:g.39049121A>T	NCBI36
NG_033859.2:g.24361T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-123T>A MANE Select	ENSP00000307599.3:n.-403-123T>A
ENST00000665106.1:n.82-123T>A
ENST00000668754.1:c.-903-123T>A	ENSP00000499569.1:n.-903-123T>A
ENST00000674755.1:n.233-123T>A
ENST00000675269.1:n.125-123T>A
ENST00000676333.1:n.39-123T>A
XM_011534335.1:c.49-123T>A	XP_011532637.1:n.49-123T>A
XM_011534336.1:c.49-123T>A	XP_011532638.1:n.49-123T>A
XR_940736.1:n.79-123T>A
XR_940737.1:n.79-123T>A
XR_940738.1:n.79-123T>A
XR_940739.1:n.79-123T>A
NM_001349253.1:c.-403-123T>A	NP_001336182.1:n.-403-123T>A
NM_001349253.2:c.-403-123T>A MANE Select	NP_001336182.1:n.-403-123T>A
NR_164473.1:n.85-123T>A