Canonical Allele Identifier: CA975393

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 258473
• ClinVar RCV Id: RCV000245300 ; RCV001522057 ; RCV002500890
• dbSNP Id: rs116303092
• ExAC: 1:103540158 T / C
• gnomAD v2: 1-103540158-T-C
• gnomAD v3: 1-103074602-T-C
• gnomAD v4: 1-103074602-T-C
• MyVariant Identifiers: chr1:g.103540158T>C (hg19) ; chr1:g.103074602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103074602T>C , CM000663.2:g.103074602T>C	GRCh38
NC_000001.10:g.103540158T>C , CM000663.1:g.103540158T>C	GRCh37
NC_000001.9:g.103312746T>C	NCBI36
NG_008033.1:g.38895A>G
NG_008033.2:g.38895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.651+16A>G MANE Select	ENSP00000359114.3:n.651+16A>G
ENST00000461720.6:c.651+16A>G	ENSP00000494909.1:n.651+16A>G
ENST00000644186.1:c.651+16A>G	ENSP00000493821.1:n.651+16A>G
ENST00000645458.1:c.651+16A>G	ENSP00000494179.1:n.651+16A>G
ENST00000647280.1:c.651+16A>G	ENSP00000494583.1:n.651+16A>G
ENST00000353414.8:c.651+16A>G	ENSP00000302551.6:n.651+16A>G
ENST00000358392.6:c.651+16A>G	ENSP00000351163.2:n.651+16A>G
ENST00000370096.7:c.651+16A>G	ENSP00000359114.3:n.651+16A>G
ENST00000427239.5:c.651+16A>G	ENSP00000408640.1:n.651+16A>G
ENST00000447608.1:c.432+16A>G	ENSP00000410177.1:n.432+16A>G
ENST00000512756.5:c.651+16A>G	ENSP00000426533.1:n.651+16A>G
NM_001190709.1:c.651+16A>G	NP_001177638.1:n.651+16A>G
NM_001854.3:c.651+16A>G	NP_001845.3:n.651+16A>G
NM_080629.2:c.651+16A>G	NP_542196.2:n.651+16A>G
NM_080630.3:c.651+16A>G	NP_542197.3:n.651+16A>G
XM_011540719.1:c.651+16A>G	XP_011539021.1:n.651+16A>G
XR_946545.1:n.1049+16A>G
NR_134980.1:n.969+16A>G
XM_017000334.1:c.651+16A>G	XP_016855823.1:n.651+16A>G
XM_017000335.1:c.651+16A>G	XP_016855824.1:n.651+16A>G
XM_017000336.1:c.651+16A>G	XP_016855825.1:n.651+16A>G
NM_001854.4:c.651+16A>G MANE Select	NP_001845.3:n.651+16A>G
NM_080630.4:c.651+16A>G	NP_542197.3:n.651+16A>G
NR_134980.2:n.995+16A>G
NM_001190709.2:c.651+16A>G	NP_001177638.1:n.651+16A>G
NM_080629.3:c.651+16A>G	NP_542196.2:n.651+16A>G