Canonical Allele Identifier: CA906895456

Gene: SCN11A

Linked Data

• dbSNP Id: rs1201419878
• gnomAD v3: 3-39032622-TTTTAAA-T
• gnomAD v4: 3-39032622-TTTTAAA-T
• MyVariant Identifiers: chr3:g.39074114_39074119del (hg19) ; chr3:g.39032623_39032628del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032623_39032628del , CM000665.2:g.39032623_39032628del	GRCh38
NC_000003.11:g.39074114_39074119del , CM000665.1:g.39074114_39074119del	GRCh37
NC_000003.10:g.39049118_39049123del	NCBI36
NG_033859.2:g.24359_24364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-125_-403-120del MANE Select	ENSP00000307599.3:n.-403-125_-403-120del
ENST00000665106.1:n.82-125_82-120del
ENST00000668754.1:c.-903-125_-903-120del	ENSP00000499569.1:n.-903-125_-903-120del
ENST00000674755.1:n.233-125_233-120del
ENST00000675269.1:n.125-125_125-120del
ENST00000676333.1:n.39-125_39-120del
XM_011534335.1:c.49-125_49-120del	XP_011532637.1:n.49-125_49-120del
XM_011534336.1:c.49-125_49-120del	XP_011532638.1:n.49-125_49-120del
XR_940736.1:n.79-125_79-120del
XR_940737.1:n.79-125_79-120del
XR_940738.1:n.79-125_79-120del
XR_940739.1:n.79-125_79-120del
NM_001349253.1:c.-403-125_-403-120del	NP_001336182.1:n.-403-125_-403-120del
NM_001349253.2:c.-403-125_-403-120del MANE Select	NP_001336182.1:n.-403-125_-403-120del
NR_164473.1:n.85-125_85-120del