Canonical Allele Identifier: CA975481

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291548
• ClinVar RCV Id: RCV000351685 ; RCV000404285 ; RCV000680462 ; RCV000513856 ; RCV004537629
• dbSNP Id: rs141978499
• ExAC: 1:103544374 C / G
• gnomAD v2: 1-103544374-C-G
• gnomAD v3: 1-103078818-C-G
• gnomAD v4: 1-103078818-C-G
• MyVariant Identifiers: chr1:g.103544374C>G (hg19) ; chr1:g.103078818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103078818C>G , CM000663.2:g.103078818C>G	GRCh38
NC_000001.10:g.103544374C>G , CM000663.1:g.103544374C>G	GRCh37
NC_000001.9:g.103316962C>G	NCBI36
NG_008033.1:g.34679G>C
NG_008033.2:g.34679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.328G>C MANE Select	ENSP00000359114.3:p.Gly110Arg
ENST00000461720.6:c.328G>C	ENSP00000494909.1:p.Gly110Arg
ENST00000644186.1:c.328G>C	ENSP00000493821.1:p.Gly110Arg
ENST00000645458.1:c.328G>C	ENSP00000494179.1:p.Gly110Arg
ENST00000647280.1:c.328G>C	ENSP00000494583.1:p.Gly110Arg
ENST00000353414.8:c.328G>C	ENSP00000302551.6:p.Gly110Arg
ENST00000358392.6:c.328G>C	ENSP00000351163.2:p.Gly110Arg
ENST00000370096.7:c.328G>C	ENSP00000359114.3:p.Gly110Arg
ENST00000427239.5:c.328G>C	ENSP00000408640.1:p.Gly110Arg
ENST00000447608.1:c.109G>C	ENSP00000410177.1:p.Gly37Arg
ENST00000512756.5:c.328G>C	ENSP00000426533.1:p.Gly110Arg
NM_001190709.1:c.328G>C	NP_001177638.1:p.Gly110Arg
NM_001854.3:c.328G>C	NP_001845.3:p.Gly110Arg
NM_080629.2:c.328G>C	NP_542196.2:p.Gly110Arg
NM_080630.3:c.328G>C	NP_542197.3:p.Gly110Arg
XM_011540719.1:c.328G>C	XP_011539021.1:p.Gly110Arg
XR_946545.1:n.726G>C
NR_134980.1:n.646G>C
XM_017000334.1:c.328G>C	XP_016855823.1:p.Gly110Arg
XM_017000335.1:c.328G>C	XP_016855824.1:p.Gly110Arg
XM_017000336.1:c.328G>C	XP_016855825.1:p.Gly110Arg
NM_001854.4:c.328G>C MANE Select	NP_001845.3:p.Gly110Arg
NM_080630.4:c.328G>C	NP_542197.3:p.Gly110Arg
NR_134980.2:n.672G>C
NM_001190709.2:c.328G>C	NP_001177638.1:p.Gly110Arg
NM_080629.3:c.328G>C	NP_542196.2:p.Gly110Arg