Canonical Allele Identifier: CA10066879
Gene: COL18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45492571G>C
GRCh37 chr21:g.46912485G>C
gnomAD v2:
21:46912485 G / C
gnomAD v3:
21:45492571 G / C
gnomAD v4:
chr21-45492571-G-C
Joint Max Group AF 0.0010642 (SAS)
Genomes Max Group AF 0.00016885 (SAS)
Exomes Max Group AF 0.00109265 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45492571G>C , CM000683.2:g.45492571G>C GRCh38
NC_000021.8:g.46912485G>C , CM000683.1:g.46912485G>C GRCh37
NC_000021.7:g.45736913G>C NCBI36
NG_011903.1:g.92389G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.2727+7G>C ENSP00000347665.5:n.2727+7G>C
ENST00000651438.1:c.2187+7G>C MANE Select ENSP00000498485.1:n.2187+7G>C
ENST00000342220.9:c.228+7G>C ENSP00000339118.5:n.228+7G>C
ENST00000355480.9:c.2727+7G>C ENSP00000347665.5:n.2727+7G>C
ENST00000359759.8:c.3432+7G>C ENSP00000352798.4:n.3432+7G>C
ENST00000400337.6:c.2187+7G>C ENSP00000383191.2:n.2187+7G>C
NM_030582.3:c.2727+7G>C NP_085059.2:n.2727+7G>C
NM_130444.2:c.3432+7G>C NP_569711.2:n.3432+7G>C
NM_130445.3:c.2187+7G>C NP_569712.2:n.2187+7G>C
NM_030582.4:c.2727+7G>C NP_085059.2:n.2727+7G>C
NM_130444.3:c.3432+7G>C NP_569711.2:n.3432+7G>C
NM_130445.4:c.2187+7G>C NP_569712.2:n.2187+7G>C
NM_001379500.1:c.2187+7G>C MANE Select NP_001366429.1:n.2187+7G>C
Search 100 bp 5'
Search 100 bp 3'