Canonical Allele Identifier: CA2216856200
Community Standard Title: NM_004604.5(STX4):c.379-1168C=
Gene: STX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31036758C= , CM000678.2:g.31036758C= GRCh38
NC_000016.9:g.31048079C= , CM000678.1:g.31048079C= GRCh37
NC_000016.8:g.30955580C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004604.5:c.379-1168C= MANE Select NP_004595.2:n.379-1168C=
ENST00000313843.8:c.379-1168C= MANE Select ENSP00000317714.3:n.379-1168C=
NM_001272095.1:c.145-1168C= NP_001259024.1:n.145-1168C=
NM_001272096.1:c.373-1168C= NP_001259025.1:n.373-1168C=
NM_004604.4:c.379-1168C= NP_004595.2:n.379-1168C=
ENST00000313843.7:c.379-1168C= ENSP00000317714.3:n.379-1168C=
ENST00000394998.5:c.373-1168C= ENSP00000378447.1:n.373-1168C=
ENST00000460668.5:c.*206-1168C= ENSP00000454419.1:n.*206-1168C=
ENST00000487411.5:n.775-1168C=
ENST00000493902.5:n.839+997C=
ENST00000496977.5:c.*206-1168C= ENSP00000454841.1:n.*206-1168C=
ENST00000566353.6:n.786-1168C=
XM_005255521.1:c.367-1168C= XP_005255578.1:n.367-1168C=
XM_011545925.1:c.-52+997C= XP_011544227.1:n.-52+997C=
XR_002957836.1:n.649-1168C=
XR_002957837.1:n.611-1168C=
XR_002957838.1:n.262+997C=