Canonical Allele Identifier: CA3882832
Gene: COL9A1 HGNC NCBI
COSMIC:
COSM274631
MyVariant.info:
GRCh38 chr6:g.70294510C>T
GRCh37 chr6:g.71004213C>T
Revel Score:
ENST00000357250 (MANE Select) 0.366
ENST00000370496 0.366
gnomAD v2:
6:71004213 C / T
gnomAD v3:
6:70294510 C / T
gnomAD v4:
chr6-70294510-C-T
Joint Max Group AF 0.00198762 (AFR)
Genomes Max Group AF 0.00162867 (AFR)
Exomes Max Group AF 0.00218524 (AFR)
ClinVar RCV:
RCV000732119
RCV000764655
ClinVar Variation:
449774
dbSNP:
143848379
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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
Search 100 bp 5'
Search 100 bp 3'