Canonical Allele Identifier: CA10066351

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 340222
• ClinVar RCV Id: RCV000333487 ; RCV001491062 ; RCV004549788 ; RCV000602020
• dbSNP Id: rs200886865
• ExAC: 21:46900608 G / A
• gnomAD v2: 21-46900608-G-A
• gnomAD v3: 21-45480694-G-A
• gnomAD v4: 21-45480694-G-A
• MyVariant Identifiers: chr21:g.46900608G>A (hg19) ; chr21:g.45480694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45480694G>A , CM000683.2:g.45480694G>A	GRCh38
NC_000021.8:g.46900608G>A , CM000683.1:g.46900608G>A	GRCh37
NC_000021.7:g.45725036G>A	NCBI36
NG_011903.1:g.80512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.1993-6G>A	ENSP00000347665.5:n.1993-6G>A
ENST00000651438.1:c.1453-6G>A MANE Select	ENSP00000498485.1:n.1453-6G>A
ENST00000355480.9:c.1993-6G>A	ENSP00000347665.5:n.1993-6G>A
ENST00000359759.8:c.2698-6G>A	ENSP00000352798.4:n.2698-6G>A
ENST00000400337.6:c.1453-6G>A	ENSP00000383191.2:n.1453-6G>A
NM_030582.3:c.1993-6G>A	NP_085059.2:n.1993-6G>A
NM_130444.2:c.2698-6G>A	NP_569711.2:n.2698-6G>A
NM_130445.3:c.1453-6G>A	NP_569712.2:n.1453-6G>A
NM_030582.4:c.1993-6G>A	NP_085059.2:n.1993-6G>A
NM_130444.3:c.2698-6G>A	NP_569711.2:n.2698-6G>A
NM_130445.4:c.1453-6G>A	NP_569712.2:n.1453-6G>A
NM_001379500.1:c.1453-6G>A MANE Select	NP_001366429.1:n.1453-6G>A