Canonical Allele Identifier: CA3882097

Gene: COL9A1

Linked Data

• ClinVar Variation Id: 282983
• ClinVar RCV Id: RCV000344967 ; RCV000764653
• dbSNP Id: rs145698301
• ExAC: 6:70964697 C / T
• gnomAD v2: 6-70964697-C-T
• gnomAD v3: 6-70254994-C-T
• gnomAD v4: 6-70254994-C-T
• MyVariant Identifiers: chr6:g.70964697C>T (hg19) ; chr6:g.70254994C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70254994C>T , CM000668.2:g.70254994C>T	GRCh38
NC_000006.11:g.70964697C>T , CM000668.1:g.70964697C>T	GRCh37
NC_000006.10:g.71021418C>T	NCBI36
NG_011654.1:g.53090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000683980.2:c.905G>A	ENSP00000506990.1:p.Arg302His
ENST00000360859.12:n.320G>A
ENST00000493682.7:n.1628G>A
ENST00000683602.1:n.2371G>A
ENST00000683758.1:c.905G>A	ENSP00000508147.1:p.Arg302His
ENST00000683980.1:c.905G>A	ENSP00000506990.1:p.Arg302His
ENST00000684176.1:n.976G>A
ENST00000320755.12:c.905G>A	ENSP00000315252.7:p.Arg302His
ENST00000357250.11:c.1634G>A MANE Select	ENSP00000349790.6:p.Arg545His
ENST00000360859.11:n.320G>A
ENST00000644493.1:c.*671G>A	ENSP00000495638.1:n.*671G>A
ENST00000320755.11:c.905G>A	ENSP00000315252.7:p.Arg302His
ENST00000357250.10:c.1634G>A	ENSP00000349790.6:p.Arg545His
ENST00000360859.10:n.280G>A
ENST00000489611.5:n.726G>A
ENST00000493682.6:n.607G>A
NM_001851.4:c.1634G>A	NP_001842.3:p.Arg545His
NM_078485.3:c.905G>A	NP_511040.2:p.Arg302His
XM_011535429.1:c.1634G>A	XP_011533731.1:p.Arg545His
XM_011535430.1:c.905G>A	XP_011533732.1:p.Arg302His
XM_011535431.1:c.296G>A	XP_011533733.1:p.Arg99His
XM_011535429.3:c.1634G>A	XP_011533731.1:p.Arg545His
XM_011535430.3:c.905G>A	XP_011533732.1:p.Arg302His
XM_017010246.2:c.1085G>A	XP_016865735.1:p.Arg362His
XM_017010247.2:c.353G>A	XP_016865736.1:p.Arg118His
NM_001377289.1:c.905G>A	NP_001364218.1:p.Arg302His
NM_001377290.1:c.905G>A	NP_001364219.1:p.Arg302His
NM_001851.5:c.1634G>A	NP_001842.3:p.Arg545His
NM_078485.4:c.905G>A	NP_511040.2:p.Arg302His
NR_165185.1:n.1155G>A
NM_001851.6:c.1634G>A MANE Select	NP_001842.3:p.Arg545His