Canonical Allele Identifier: CA3882832

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 449774
• ClinVar RCV Id: RCV000732119 ; RCV000764655
• dbSNP Id: rs143848379
• ExAC: 6:71004213 C / T
• gnomAD v2: 6-71004213-C-T
• gnomAD v3: 6-70294510-C-T
• gnomAD v4: 6-70294510-C-T
• COSMIC: COSM274631
• MyVariant Identifiers: chr6:g.71004213C>T (hg19) ; chr6:g.70294510C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70294510C>T , CM000668.2:g.70294510C>T	GRCh38
NC_000006.11:g.71004213C>T , CM000668.1:g.71004213C>T	GRCh37
NC_000006.10:g.71060934C>T	NCBI36
NG_011654.1:g.13574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357250.11:c.353G>A MANE Select	ENSP00000349790.6:p.Arg118Gln
ENST00000357250.10:c.353G>A	ENSP00000349790.6:p.Arg118Gln
ENST00000370496.3:c.353G>A	ENSP00000359527.3:p.Arg118Gln
NM_001851.4:c.353G>A	NP_001842.3:p.Arg118Gln
XM_011535429.1:c.353G>A	XP_011533731.1:p.Arg118Gln
XM_011535429.3:c.353G>A	XP_011533731.1:p.Arg118Gln
XM_017010246.2:c.-12-185G>A	XP_016865735.1:n.-12-185G>A
NM_001377291.1:c.353G>A	NP_001364220.1:p.Arg118Gln
NM_001851.5:c.353G>A	NP_001842.3:p.Arg118Gln
NM_001851.6:c.353G>A MANE Select	NP_001842.3:p.Arg118Gln