Canonical Allele Identifier: CA410518558

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 427899
• ClinVar RCV Id: RCV000490890
• dbSNP Id: rs1114167359
• MyVariant Identifiers: chr21:g.46901878G>T (hg19) ; chr21:g.45481964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45481964G>T , CM000683.2:g.45481964G>T	GRCh38
NC_000021.8:g.46901878G>T , CM000683.1:g.46901878G>T	GRCh37
NC_000021.7:g.45726306G>T	NCBI36
NG_011903.1:g.81782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.2153G>T	ENSP00000347665.5:p.Gly718Val
ENST00000651438.1:c.1613G>T MANE Select	ENSP00000498485.1:p.Gly538Val
ENST00000355480.9:c.2153G>T	ENSP00000347665.5:p.Gly718Val
ENST00000359759.8:c.2858G>T	ENSP00000352798.4:p.Gly953Val
ENST00000400337.6:c.1613G>T	ENSP00000383191.2:p.Gly538Val
NM_030582.3:c.2153G>T	NP_085059.2:p.Gly718Val
NM_130444.2:c.2858G>T	NP_569711.2:p.Gly953Val
NM_130445.3:c.1613G>T	NP_569712.2:p.Gly538Val
NM_030582.4:c.2153G>T	NP_085059.2:p.Gly718Val
NM_130444.3:c.2858G>T	NP_569711.2:p.Gly953Val
NM_130445.4:c.1613G>T	NP_569712.2:p.Gly538Val
NM_001379500.1:c.1613G>T MANE Select	NP_001366429.1:p.Gly538Val