Canonical Allele Identifier: CA10066829
Gene: COL18A1 HGNC NCBI
COSMIC:
COSM4808346 (not active)
COSM4808347 (not active)
MyVariant.info:
GRCh38 chr21:g.45491305G>A
GRCh37 chr21:g.46911219G>A
gnomAD v2:
21:46911219 G / A
gnomAD v3:
21:45491305 G / A
gnomAD v4:
chr21-45491305-G-A
Joint Max Group AF 0.00009219 (AFR)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00011832 (AFR)
ClinVar RCV:
RCV000329523
RCV001865238
ClinVar Variation:
340237
dbSNP:
374522196
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45491305G>A , CM000683.2:g.45491305G>A GRCh38
NC_000021.8:g.46911219G>A , CM000683.1:g.46911219G>A GRCh37
NC_000021.7:g.45735647G>A NCBI36
NG_011903.1:g.91123G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.2688G>A ENSP00000347665.5:p.Ser896=
ENST00000651438.1:c.2148G>A MANE Select ENSP00000498485.1:p.Ser716=
ENST00000342220.9:c.189G>A ENSP00000339118.5:p.Ser63=
ENST00000355480.9:c.2688G>A ENSP00000347665.5:p.Ser896=
ENST00000359759.8:c.3393G>A ENSP00000352798.4:p.Ser1131=
ENST00000400337.6:c.2148G>A ENSP00000383191.2:p.Ser716=
NM_030582.3:c.2688G>A NP_085059.2:p.Ser896=
NM_130444.2:c.3393G>A NP_569711.2:p.Ser1131=
NM_130445.3:c.2148G>A NP_569712.2:p.Ser716=
NM_030582.4:c.2688G>A NP_085059.2:p.Ser896=
NM_130444.3:c.3393G>A NP_569711.2:p.Ser1131=
NM_130445.4:c.2148G>A NP_569712.2:p.Ser716=
NM_001379500.1:c.2148G>A MANE Select NP_001366429.1:p.Ser716=
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