Canonical Allele Identifier: CA10065852

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 340201
• ClinVar RCV Id: RCV000359642 ; RCV001513049 ; RCV004549781
• dbSNP Id: rs149772252
• ExAC: 21:46893850 G / A
• gnomAD v2: 21-46893850-G-A
• gnomAD v3: 21-45473936-G-A
• gnomAD v4: 21-45473936-G-A
• MyVariant Identifiers: chr21:g.46893850G>A (hg19) ; chr21:g.45473936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45473936G>A , CM000683.2:g.45473936G>A	GRCh38
NC_000021.8:g.46893850G>A , CM000683.1:g.46893850G>A	GRCh37
NC_000021.7:g.45718278G>A	NCBI36
NG_011903.1:g.73754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.1233G>A	ENSP00000347665.5:p.Val411=
ENST00000651438.1:c.693G>A MANE Select	ENSP00000498485.1:p.Val231=
ENST00000355480.9:c.1233G>A	ENSP00000347665.5:p.Val411=
ENST00000359759.8:c.1938G>A	ENSP00000352798.4:p.Val646=
ENST00000400337.6:c.693G>A	ENSP00000383191.2:p.Val231=
NM_030582.3:c.1233G>A	NP_085059.2:p.Val411=
NM_130444.2:c.1938G>A	NP_569711.2:p.Val646=
NM_130445.3:c.693G>A	NP_569712.2:p.Val231=
NM_030582.4:c.1233G>A	NP_085059.2:p.Val411=
NM_130444.3:c.1938G>A	NP_569711.2:p.Val646=
NM_130445.4:c.693G>A	NP_569712.2:p.Val231=
NM_001379500.1:c.693G>A MANE Select	NP_001366429.1:p.Val231=