Canonical Allele Identifier: CA10065497
Gene: COL18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45456045G>A
GRCh37 chr21:g.46875959G>A
Revel Score:
ENST00000355480 0.019
ENST00000359759 0.019
ENST00000539645 0.019
gnomAD v2:
21:46875959 G / A
gnomAD v3:
21:45456045 G / A
gnomAD v4:
chr21-45456045-G-A
Joint Max Group AF 0.00114447 (NFE)
Genomes Max Group AF 0.00080864 (NFE)
Exomes Max Group AF 0.00115519 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45456045G>A , CM000683.2:g.45456045G>A GRCh38
NC_000021.8:g.46875959G>A , CM000683.1:g.46875959G>A GRCh37
NC_000021.7:g.45700387G>A NCBI36
NG_011903.1:g.55863G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.515G>A ENSP00000347665.5:p.Arg172His
ENST00000651438.1:c.107-12197G>A MANE Select ENSP00000498485.1:n.107-12197G>A
ENST00000355480.9:c.515G>A ENSP00000347665.5:p.Arg172His
ENST00000359759.8:c.515G>A ENSP00000352798.4:p.Arg172His
ENST00000400337.6:c.107-12197G>A ENSP00000383191.2:n.107-12197G>A
NM_030582.3:c.515G>A NP_085059.2:p.Arg172His
NM_130444.2:c.515G>A NP_569711.2:p.Arg172His
NM_130445.3:c.107-12197G>A NP_569712.2:n.107-12197G>A
NM_030582.4:c.515G>A NP_085059.2:p.Arg172His
NM_130444.3:c.515G>A NP_569711.2:p.Arg172His
NM_130445.4:c.107-12197G>A NP_569712.2:n.107-12197G>A
NM_001379500.1:c.107-12197G>A MANE Select NP_001366429.1:n.107-12197G>A
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