Canonical Allele Identifier: CA10065497

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 447131
• ClinVar RCV Id: RCV000517619 ; RCV000764262 ; RCV000766954 ; RCV002527466 ; RCV004553126
• dbSNP Id: rs200284308
• ExAC: 21:46875959 G / A
• gnomAD v2: 21-46875959-G-A
• gnomAD v3: 21-45456045-G-A
• gnomAD v4: 21-45456045-G-A
• MyVariant Identifiers: chr21:g.46875959G>A (hg19) ; chr21:g.45456045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45456045G>A , CM000683.2:g.45456045G>A	GRCh38
NC_000021.8:g.46875959G>A , CM000683.1:g.46875959G>A	GRCh37
NC_000021.7:g.45700387G>A	NCBI36
NG_011903.1:g.55863G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.515G>A	ENSP00000347665.5:p.Arg172His
ENST00000651438.1:c.107-12197G>A MANE Select	ENSP00000498485.1:n.107-12197G>A
ENST00000355480.9:c.515G>A	ENSP00000347665.5:p.Arg172His
ENST00000359759.8:c.515G>A	ENSP00000352798.4:p.Arg172His
ENST00000400337.6:c.107-12197G>A	ENSP00000383191.2:n.107-12197G>A
NM_030582.3:c.515G>A	NP_085059.2:p.Arg172His
NM_130444.2:c.515G>A	NP_569711.2:p.Arg172His
NM_130445.3:c.107-12197G>A	NP_569712.2:n.107-12197G>A
NM_030582.4:c.515G>A	NP_085059.2:p.Arg172His
NM_130444.3:c.515G>A	NP_569711.2:p.Arg172His
NM_130445.4:c.107-12197G>A	NP_569712.2:n.107-12197G>A
NM_001379500.1:c.107-12197G>A MANE Select	NP_001366429.1:n.107-12197G>A