Canonical Allele Identifier: CA10066742
Gene: COL18A1 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.45490355C>T
GRCh37 chr21:g.46910269C>T
gnomAD v2:
21:46910269 C / T
gnomAD v3:
21:45490355 C / T
gnomAD v4:
chr21-45490355-C-T
Joint Max Group AF 0.00005978 (MID)
Genomes Max Group AF 0.0000049 (NFE)
Exomes Max Group AF 0.00006286 (MID)
ClinVar RCV:
RCV000310994
RCV002523185
ClinVar Variation:
340232
dbSNP:
780751282
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45490355C>T , CM000683.2:g.45490355C>T GRCh38
NC_000021.8:g.46910269C>T , CM000683.1:g.46910269C>T GRCh37
NC_000021.7:g.45734697C>T NCBI36
NG_011903.1:g.90173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.2571+9C>T ENSP00000347665.5:n.2571+9C>T
ENST00000651438.1:c.2031+9C>T MANE Select ENSP00000498485.1:n.2031+9C>T
ENST00000342220.9:c.72+9C>T ENSP00000339118.5:n.72+9C>T
ENST00000355480.9:c.2571+9C>T ENSP00000347665.5:n.2571+9C>T
ENST00000359759.8:c.3276+9C>T ENSP00000352798.4:n.3276+9C>T
ENST00000400337.6:c.2031+9C>T ENSP00000383191.2:n.2031+9C>T
NM_030582.3:c.2571+9C>T NP_085059.2:n.2571+9C>T
NM_130444.2:c.3276+9C>T NP_569711.2:n.3276+9C>T
NM_130445.3:c.2031+9C>T NP_569712.2:n.2031+9C>T
NM_030582.4:c.2571+9C>T NP_085059.2:n.2571+9C>T
NM_130444.3:c.3276+9C>T NP_569711.2:n.3276+9C>T
NM_130445.4:c.2031+9C>T NP_569712.2:n.2031+9C>T
NM_001379500.1:c.2031+9C>T MANE Select NP_001366429.1:n.2031+9C>T
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