Canonical Allele Identifier: CA1047033675

Gene: SCN11A

Linked Data

• dbSNP Id: rs2031791326
• gnomAD v3: 3-39032710-CA-C
• gnomAD v4: 3-39032710-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032712del , CM000665.2:g.39032712del	GRCh38
NC_000003.11:g.39074203del , CM000665.1:g.39074203del	GRCh37
NC_000003.10:g.39049207del	NCBI36
NG_033859.2:g.24276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-208del MANE Select	ENSP00000307599.3:n.-403-208del
ENST00000665106.1:n.82-208del
ENST00000668754.1:c.-903-208del	ENSP00000499569.1:n.-903-208del
ENST00000674755.1:n.233-208del
ENST00000675269.1:n.125-208del
ENST00000676333.1:n.39-208del
XM_011534335.1:c.49-208del	XP_011532637.1:n.49-208del
XM_011534336.1:c.49-208del	XP_011532638.1:n.49-208del
XR_940736.1:n.79-208del
XR_940737.1:n.79-208del
XR_940738.1:n.79-208del
XR_940739.1:n.79-208del
NM_001349253.1:c.-403-208del	NP_001336182.1:n.-403-208del
NM_001349253.2:c.-403-208del MANE Select	NP_001336182.1:n.-403-208del
NR_164473.1:n.85-208del