Canonical Allele Identifier: CA410514354

Gene: COL18A1

Linked Data

• MyVariant Identifiers: chr21:g.46896299C>A (hg19) ; chr21:g.45476385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476385C>A , CM000683.2:g.45476385C>A	GRCh38
NC_000021.8:g.46896299C>A , CM000683.1:g.46896299C>A	GRCh37
NC_000021.7:g.45720727C>A	NCBI36
NG_011903.1:g.76203C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1373C>A	ENSP00000347665.5:p.Pro458His
ENST00000651438.1:c.833C>A MANE Select	ENSP00000498485.1:p.Pro278His
ENST00000355480.9:c.1373C>A	ENSP00000347665.5:p.Pro458His
ENST00000359759.8:c.2078C>A	ENSP00000352798.4:p.Pro693His
ENST00000400337.6:c.833C>A	ENSP00000383191.2:p.Pro278His
NM_030582.3:c.1373C>A	NP_085059.2:p.Pro458His
NM_130444.2:c.2078C>A	NP_569711.2:p.Pro693His
NM_130445.3:c.833C>A	NP_569712.2:p.Pro278His
NM_030582.4:c.1373C>A	NP_085059.2:p.Pro458His
NM_130444.3:c.2078C>A	NP_569711.2:p.Pro693His
NM_130445.4:c.833C>A	NP_569712.2:p.Pro278His
NM_001379500.1:c.833C>A MANE Select	NP_001366429.1:p.Pro278His