Canonical Allele Identifier: CA72969657
Gene: SCN11A HGNC NCBI

Linked Data

dbSNP Id: rs957720207

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39032700G>A , CM000665.2:g.39032700G>A GRCh38
NC_000003.11:g.39074191G>A , CM000665.1:g.39074191G>A GRCh37
NC_000003.10:g.39049195G>A NCBI36
NG_033859.2:g.24287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.-403-197C>T MANE Select ENSP00000307599.3:n.-403-197C>T
ENST00000665106.1:n.82-197C>T
ENST00000668754.1:c.-903-197C>T ENSP00000499569.1:n.-903-197C>T
ENST00000674755.1:n.233-197C>T
ENST00000675269.1:n.125-197C>T
ENST00000676333.1:n.39-197C>T
XM_011534335.1:c.49-197C>T XP_011532637.1:n.49-197C>T
XM_011534336.1:c.49-197C>T XP_011532638.1:n.49-197C>T
XR_940736.1:n.79-197C>T
XR_940737.1:n.79-197C>T
XR_940738.1:n.79-197C>T
XR_940739.1:n.79-197C>T
NM_001349253.1:c.-403-197C>T NP_001336182.1:n.-403-197C>T
NM_001349253.2:c.-403-197C>T MANE Select NP_001336182.1:n.-403-197C>T
NR_164473.1:n.85-197C>T