Canonical Allele Identifier: CA10066510

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 340227
• ClinVar RCV Id: RCV000340898 ; RCV004549789 ; RCV001349865 ; RCV002523183
• dbSNP Id: rs201476017
• ExAC: 21:46902721 G / A
• gnomAD v2: 21-46902721-G-A
• gnomAD v3: 21-45482807-G-A
• gnomAD v4: 21-45482807-G-A
• MyVariant Identifiers: chr21:g.46902721G>A (hg19) ; chr21:g.45482807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45482807G>A , CM000683.2:g.45482807G>A	GRCh38
NC_000021.8:g.46902721G>A , CM000683.1:g.46902721G>A	GRCh37
NC_000021.7:g.45727149G>A	NCBI36
NG_011903.1:g.82625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.2227G>A	ENSP00000347665.5:p.Ala743Thr
ENST00000651438.1:c.1687G>A MANE Select	ENSP00000498485.1:p.Ala563Thr
ENST00000355480.9:c.2227G>A	ENSP00000347665.5:p.Ala743Thr
ENST00000359759.8:c.2932G>A	ENSP00000352798.4:p.Ala978Thr
ENST00000400337.6:c.1687G>A	ENSP00000383191.2:p.Ala563Thr
NM_030582.3:c.2227G>A	NP_085059.2:p.Ala743Thr
NM_130444.2:c.2932G>A	NP_569711.2:p.Ala978Thr
NM_130445.3:c.1687G>A	NP_569712.2:p.Ala563Thr
NM_030582.4:c.2227G>A	NP_085059.2:p.Ala743Thr
NM_130444.3:c.2932G>A	NP_569711.2:p.Ala978Thr
NM_130445.4:c.1687G>A	NP_569712.2:p.Ala563Thr
NM_001379500.1:c.1687G>A MANE Select	NP_001366429.1:p.Ala563Thr