Canonical Allele Identifier: CA1305078634
Gene: SCN7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166521468A= , CM000664.2:g.166521468A= GRCh38
NC_000002.11:g.167377978A= , CM000664.1:g.167377978A= GRCh37
NC_000002.10:g.167086224A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000650747.1:c.-14-43758T= ENSP00000498959.1:n.-14-43758T=
XR_923553.1:n.1142+20708A=
XR_923554.1:n.1425+20708A=