Canonical Allele Identifier: CA2392171469
Gene: COL18A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45476220G= , CM000683.2:g.45476220G= GRCh38
NC_000021.8:g.46896134G= , CM000683.1:g.46896134G= GRCh37
NC_000021.7:g.45720562G= NCBI36
NG_011903.1:g.76038G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.1339-131G= ENSP00000347665.5:n.1339-131G=
ENST00000651438.1:c.799-131G= MANE Select ENSP00000498485.1:n.799-131G=
ENST00000355480.9:c.1339-131G= ENSP00000347665.5:n.1339-131G=
ENST00000359759.8:c.2044-131G= ENSP00000352798.4:n.2044-131G=
ENST00000400337.6:c.799-131G= ENSP00000383191.2:n.799-131G=
NM_030582.3:c.1339-131G= NP_085059.2:n.1339-131G=
NM_130444.2:c.2044-131G= NP_569711.2:n.2044-131G=
NM_130445.3:c.799-131G= NP_569712.2:n.799-131G=
NM_030582.4:c.1339-131G= NP_085059.2:n.1339-131G=
NM_130444.3:c.2044-131G= NP_569711.2:n.2044-131G=
NM_130445.4:c.799-131G= NP_569712.2:n.799-131G=
NM_001379500.1:c.799-131G= MANE Select NP_001366429.1:n.799-131G=