Canonical Allele Identifier: CA10650623
Gene: COL18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45477788G>A
GRCh37 chr21:g.46897702G>A
gnomAD v2:
21:46897702 G / A
gnomAD v3:
21:45477788 G / A
gnomAD v4:
chr21-45477788-G-A
Joint Max Group AF 0.00002828 (NFE)
Genomes Max Group AF 0.00005844 (NFE)
Exomes Max Group AF 0.00002358 (NFE)
ClinVar Allele:
346711
ClinVar RCV:
RCV000291371
RCV002057764
ClinVar Variation:
340211
dbSNP:
886057122
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45477788G>A , CM000683.2:g.45477788G>A GRCh38
NC_000021.8:g.46897702G>A , CM000683.1:g.46897702G>A GRCh37
NC_000021.7:g.45722130G>A NCBI36
NG_011903.1:g.77606G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.1584G>A ENSP00000347665.5:p.Pro528=
ENST00000651438.1:c.1044G>A MANE Select ENSP00000498485.1:p.Pro348=
ENST00000355480.9:c.1584G>A ENSP00000347665.5:p.Pro528=
ENST00000359759.8:c.2289G>A ENSP00000352798.4:p.Pro763=
ENST00000400337.6:c.1044G>A ENSP00000383191.2:p.Pro348=
NM_030582.3:c.1584G>A NP_085059.2:p.Pro528=
NM_130444.2:c.2289G>A NP_569711.2:p.Pro763=
NM_130445.3:c.1044G>A NP_569712.2:p.Pro348=
NM_030582.4:c.1584G>A NP_085059.2:p.Pro528=
NM_130444.3:c.2289G>A NP_569711.2:p.Pro763=
NM_130445.4:c.1044G>A NP_569712.2:p.Pro348=
NM_001379500.1:c.1044G>A MANE Select NP_001366429.1:p.Pro348=
Search 100 bp 5'
Search 100 bp 3'