Canonical Allele Identifier: CA10065951

Gene: COL18A1

Linked Data

• ClinVar Variation Id: 1721912
• ClinVar RCV Id: RCV002302260
• dbSNP Id: rs758191525
• ExAC: 21:46896296 C / T
• gnomAD v2: 21-46896296-C-T
• gnomAD v4: 21-45476382-C-T
• MyVariant Identifiers: chr21:g.46896296C>T (hg19) ; chr21:g.45476382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45476382C>T , CM000683.2:g.45476382C>T	GRCh38
NC_000021.8:g.46896296C>T , CM000683.1:g.46896296C>T	GRCh37
NC_000021.7:g.45720724C>T	NCBI36
NG_011903.1:g.76200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.1370C>T	ENSP00000347665.5:p.Pro457Leu
ENST00000651438.1:c.830C>T MANE Select	ENSP00000498485.1:p.Pro277Leu
ENST00000355480.9:c.1370C>T	ENSP00000347665.5:p.Pro457Leu
ENST00000359759.8:c.2075C>T	ENSP00000352798.4:p.Pro692Leu
ENST00000400337.6:c.830C>T	ENSP00000383191.2:p.Pro277Leu
NM_030582.3:c.1370C>T	NP_085059.2:p.Pro457Leu
NM_130444.2:c.2075C>T	NP_569711.2:p.Pro692Leu
NM_130445.3:c.830C>T	NP_569712.2:p.Pro277Leu
NM_030582.4:c.1370C>T	NP_085059.2:p.Pro457Leu
NM_130444.3:c.2075C>T	NP_569711.2:p.Pro692Leu
NM_130445.4:c.830C>T	NP_569712.2:p.Pro277Leu
NM_001379500.1:c.830C>T MANE Select	NP_001366429.1:p.Pro277Leu