Canonical Allele Identifier: CA27703141

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1990108
• ClinVar RCV Id: RCV002800719
• dbSNP Id: rs201972285
• gnomAD v2: 1-103444294-G-C
• gnomAD v3: 1-102978738-G-C
• gnomAD v4: 1-102978738-G-C
• MyVariant Identifiers: chr1:g.103444294G>C (hg19) ; chr1:g.102978738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978738G>C , CM000663.2:g.102978738G>C	GRCh38
NC_000001.10:g.103444294G>C , CM000663.1:g.103444294G>C	GRCh37
NC_000001.9:g.103216882G>C	NCBI36
NG_008033.1:g.134759C>G
NG_008033.2:g.134759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2724C>G MANE Select	ENSP00000359114.3:p.Gly908=
ENST00000353414.8:c.2607C>G	ENSP00000302551.6:p.Gly869=
ENST00000358392.6:c.2760C>G	ENSP00000351163.2:p.Gly920=
ENST00000370096.7:c.2724C>G	ENSP00000359114.3:p.Gly908=
ENST00000512756.5:c.2376C>G	ENSP00000426533.1:p.Gly792=
ENST00000635193.1:c.2058C>G
NM_001190709.1:c.2607C>G	NP_001177638.1:p.Gly869=
NM_001854.3:c.2724C>G	NP_001845.3:p.Gly908=
NM_080629.2:c.2760C>G	NP_542196.2:p.Gly920=
NM_080630.3:c.2376C>G	NP_542197.3:p.Gly792=
XM_011540719.1:c.2724C>G	XP_011539021.1:p.Gly908=
XM_011540720.1:c.957C>G	XP_011539022.1:p.Gly319=
XM_011540721.1:c.312C>G	XP_011539023.1:p.Gly104=
XR_946545.1:n.3138C>G
NR_134980.1:n.3058C>G
XM_017000334.1:c.2877C>G	XP_016855823.1:p.Gly959=
XM_017000335.1:c.2871C>G	XP_016855824.1:p.Gly957=
XM_017000336.1:c.2877C>G	XP_016855825.1:p.Gly959=
XM_017000337.1:c.1275C>G	XP_016855826.1:p.Gly425=
NM_001854.4:c.2724C>G MANE Select	NP_001845.3:p.Gly908=
NM_080630.4:c.2376C>G	NP_542197.3:p.Gly792=
NR_134980.2:n.3084C>G
NM_001190709.2:c.2607C>G	NP_001177638.1:p.Gly869=
NM_080629.3:c.2760C>G	NP_542196.2:p.Gly920=