Canonical Allele Identifier: CA2654909337
Gene: COL18A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45476287-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45476287C>A , CM000683.2:g.45476287C>A GRCh38
NC_000021.8:g.46896201C>A , CM000683.1:g.46896201C>A GRCh37
NC_000021.7:g.45720629C>A NCBI36
NG_011903.1:g.76105C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.1339-64C>A ENSP00000347665.5:n.1339-64C>A
ENST00000651438.1:c.799-64C>A MANE Select ENSP00000498485.1:n.799-64C>A
ENST00000355480.9:c.1339-64C>A ENSP00000347665.5:n.1339-64C>A
ENST00000359759.8:c.2044-64C>A ENSP00000352798.4:n.2044-64C>A
ENST00000400337.6:c.799-64C>A ENSP00000383191.2:n.799-64C>A
NM_030582.3:c.1339-64C>A NP_085059.2:n.1339-64C>A
NM_130444.2:c.2044-64C>A NP_569711.2:n.2044-64C>A
NM_130445.3:c.799-64C>A NP_569712.2:n.799-64C>A
NM_030582.4:c.1339-64C>A NP_085059.2:n.1339-64C>A
NM_130444.3:c.2044-64C>A NP_569711.2:n.2044-64C>A
NM_130445.4:c.799-64C>A NP_569712.2:n.799-64C>A
NM_001379500.1:c.799-64C>A MANE Select NP_001366429.1:n.799-64C>A
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