Canonical Allele Identifier: CA974949

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291533
• ClinVar RCV Id: RCV000264137 ; RCV000305207 ; RCV000922939 ; RCV004537628
• dbSNP Id: rs141770006
• ExAC: 1:103480133 A / G
• gnomAD v2: 1-103480133-A-G
• gnomAD v3: 1-103014577-A-G
• gnomAD v4: 1-103014577-A-G
• MyVariant Identifiers: chr1:g.103480133A>G (hg19) ; chr1:g.103014577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103014577A>G , CM000663.2:g.103014577A>G	GRCh38
NC_000001.10:g.103480133A>G , CM000663.1:g.103480133A>G	GRCh37
NC_000001.9:g.103252721A>G	NCBI36
NG_008033.1:g.98920T>C
NG_008033.2:g.98920T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1506T>C MANE Select	ENSP00000359114.3:p.Asp502=
ENST00000461720.6:c.1659T>C	ENSP00000494909.1:p.Asp553=
ENST00000644186.1:c.1506T>C	ENSP00000493821.1:p.Asp502=
ENST00000645458.1:c.1506T>C	ENSP00000494179.1:p.Asp502=
ENST00000647280.1:c.1506T>C	ENSP00000494583.1:p.Asp502=
ENST00000353414.8:c.1389T>C	ENSP00000302551.6:p.Asp463=
ENST00000358392.6:c.1542T>C	ENSP00000351163.2:p.Asp514=
ENST00000370096.7:c.1506T>C	ENSP00000359114.3:p.Asp502=
ENST00000427239.5:c.1542T>C	ENSP00000408640.1:p.Asp514=
ENST00000512756.5:c.1158T>C	ENSP00000426533.1:p.Asp386=
ENST00000635193.1:c.824T>C
NM_001190709.1:c.1389T>C	NP_001177638.1:p.Asp463=
NM_001854.3:c.1506T>C	NP_001845.3:p.Asp502=
NM_080629.2:c.1542T>C	NP_542196.2:p.Asp514=
NM_080630.3:c.1158T>C	NP_542197.3:p.Asp386=
XM_011540719.1:c.1506T>C	XP_011539021.1:p.Asp502=
XM_011540721.1:c.-923T>C	XP_011539023.1:n.-923T>C
XR_946545.1:n.1904T>C
NR_134980.1:n.1824T>C
XM_017000334.1:c.1659T>C	XP_016855823.1:p.Asp553=
XM_017000335.1:c.1653T>C	XP_016855824.1:p.Asp551=
XM_017000336.1:c.1659T>C	XP_016855825.1:p.Asp553=
XM_017000337.1:c.11T>C	XP_016855826.1:p.Met4Thr
NM_001854.4:c.1506T>C MANE Select	NP_001845.3:p.Asp502=
NM_080630.4:c.1158T>C	NP_542197.3:p.Asp386=
NR_134980.2:n.1850T>C
NM_001190709.2:c.1389T>C	NP_001177638.1:p.Asp463=
NM_080629.3:c.1542T>C	NP_542196.2:p.Asp514=