Canonical Allele Identifier: CA10065852
Gene: COL18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45473936G>A
GRCh37 chr21:g.46893850G>A
gnomAD v2:
21:46893850 G / A
gnomAD v3:
21:45473936 G / A
gnomAD v4:
chr21-45473936-G-A
Joint Max Group AF 0.0017791 (NFE)
Genomes Max Group AF 0.00162998 (NFE)
Exomes Max Group AF 0.00177372 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45473936G>A , CM000683.2:g.45473936G>A GRCh38
NC_000021.8:g.46893850G>A , CM000683.1:g.46893850G>A GRCh37
NC_000021.7:g.45718278G>A NCBI36
NG_011903.1:g.73754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.1233G>A ENSP00000347665.5:p.Val411=
ENST00000651438.1:c.693G>A MANE Select ENSP00000498485.1:p.Val231=
ENST00000355480.9:c.1233G>A ENSP00000347665.5:p.Val411=
ENST00000359759.8:c.1938G>A ENSP00000352798.4:p.Val646=
ENST00000400337.6:c.693G>A ENSP00000383191.2:p.Val231=
NM_030582.3:c.1233G>A NP_085059.2:p.Val411=
NM_130444.2:c.1938G>A NP_569711.2:p.Val646=
NM_130445.3:c.693G>A NP_569712.2:p.Val231=
NM_030582.4:c.1233G>A NP_085059.2:p.Val411=
NM_130444.3:c.1938G>A NP_569711.2:p.Val646=
NM_130445.4:c.693G>A NP_569712.2:p.Val231=
NM_001379500.1:c.693G>A MANE Select NP_001366429.1:p.Val231=
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