Canonical Allele Identifier: CA410514363

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 2977469
• ClinVar RCV Id: RCV003831587
• dbSNP Id: rs1405963989
• gnomAD v2: 21-46896301-C-G
• gnomAD v4: 21-45476387-C-G
• MyVariant Identifiers: chr21:g.46896301C>G (hg19) ; chr21:g.45476387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476387C>G , CM000683.2:g.45476387C>G	GRCh38
NC_000021.8:g.46896301C>G , CM000683.1:g.46896301C>G	GRCh37
NC_000021.7:g.45720729C>G	NCBI36
NG_011903.1:g.76205C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1375C>G	ENSP00000347665.5:p.Pro459Ala
ENST00000651438.1:c.835C>G MANE Select	ENSP00000498485.1:p.Pro279Ala
ENST00000355480.9:c.1375C>G	ENSP00000347665.5:p.Pro459Ala
ENST00000359759.8:c.2080C>G	ENSP00000352798.4:p.Pro694Ala
ENST00000400337.6:c.835C>G	ENSP00000383191.2:p.Pro279Ala
NM_030582.3:c.1375C>G	NP_085059.2:p.Pro459Ala
NM_130444.2:c.2080C>G	NP_569711.2:p.Pro694Ala
NM_130445.3:c.835C>G	NP_569712.2:p.Pro279Ala
NM_030582.4:c.1375C>G	NP_085059.2:p.Pro459Ala
NM_130444.3:c.2080C>G	NP_569711.2:p.Pro694Ala
NM_130445.4:c.835C>G	NP_569712.2:p.Pro279Ala
NM_001379500.1:c.835C>G MANE Select	NP_001366429.1:p.Pro279Ala