Canonical Allele Identifier: CA975201

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291541
• ClinVar RCV Id: RCV000315727 ; RCV000374868 ; RCV002059316 ; RCV000615388 ; RCV000659308
• dbSNP Id: rs200242905
• ExAC: 1:103491184 A / G
• gnomAD v2: 1-103491184-A-G
• gnomAD v3: 1-103025628-A-G
• gnomAD v4: 1-103025628-A-G
• MyVariant Identifiers: chr1:g.103491184A>G (hg19) ; chr1:g.103025628A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025628A>G , CM000663.2:g.103025628A>G	GRCh38
NC_000001.10:g.103491184A>G , CM000663.1:g.103491184A>G	GRCh37
NC_000001.9:g.103263772A>G	NCBI36
NG_008033.1:g.87869T>C
NG_008033.2:g.87869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.898-15T>C MANE Select	ENSP00000359114.3:n.898-15T>C
ENST00000461720.6:c.1051-15T>C	ENSP00000494909.1:n.1051-15T>C
ENST00000644186.1:c.898-15T>C	ENSP00000493821.1:n.898-15T>C
ENST00000645458.1:c.898-15T>C	ENSP00000494179.1:n.898-15T>C
ENST00000647280.1:c.898-15T>C	ENSP00000494583.1:n.898-15T>C
ENST00000353414.8:c.781-15T>C	ENSP00000302551.6:n.781-15T>C
ENST00000358392.6:c.934-15T>C	ENSP00000351163.2:n.934-15T>C
ENST00000370096.7:c.898-15T>C	ENSP00000359114.3:n.898-15T>C
ENST00000427239.5:c.934-15T>C	ENSP00000408640.1:n.934-15T>C
ENST00000512756.5:c.897+588T>C	ENSP00000426533.1:n.897+588T>C
ENST00000635193.1:c.216-15T>C
NM_001190709.1:c.781-15T>C	NP_001177638.1:n.781-15T>C
NM_001854.3:c.898-15T>C	NP_001845.3:n.898-15T>C
NM_080629.2:c.934-15T>C	NP_542196.2:n.934-15T>C
NM_080630.3:c.897+588T>C	NP_542197.3:n.897+588T>C
XM_011540719.1:c.898-15T>C	XP_011539021.1:n.898-15T>C
XM_011540721.1:c.-1531-15T>C	XP_011539023.1:n.-1531-15T>C
XR_946545.1:n.1296-15T>C
NR_134980.1:n.1216-15T>C
XM_017000334.1:c.1051-15T>C	XP_016855823.1:n.1051-15T>C
XM_017000335.1:c.1045-15T>C	XP_016855824.1:n.1045-15T>C
XM_017000336.1:c.1051-15T>C	XP_016855825.1:n.1051-15T>C
NM_001854.4:c.898-15T>C MANE Select	NP_001845.3:n.898-15T>C
NM_080630.4:c.897+588T>C	NP_542197.3:n.897+588T>C
NR_134980.2:n.1242-15T>C
NM_001190709.2:c.781-15T>C	NP_001177638.1:n.781-15T>C
NM_080629.3:c.934-15T>C	NP_542196.2:n.934-15T>C