Canonical Allele Identifier: CA973631

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291505
• ClinVar RCV Id: RCV000368686 ; RCV000393287 ; RCV000488030 ; RCV002480062 ; RCV002519362
• dbSNP Id: rs200496207
• ExAC: 1:103364248 C / T
• gnomAD v2: 1-103364248-C-T
• gnomAD v3: 1-102898692-C-T
• gnomAD v4: 1-102898692-C-T
• MyVariant Identifiers: chr1:g.103364248C>T (hg19) ; chr1:g.102898692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102898692C>T , CM000663.2:g.102898692C>T	GRCh38
NC_000001.10:g.103364248C>T , CM000663.1:g.103364248C>T	GRCh37
NC_000001.9:g.103136836C>T	NCBI36
NG_008033.1:g.214805G>A
NG_008033.2:g.214805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4222G>A MANE Select	ENSP00000359114.3:p.Gly1408Ser
ENST00000353414.8:c.4105G>A	ENSP00000302551.6:p.Gly1369Ser
ENST00000358392.6:c.4258G>A	ENSP00000351163.2:p.Gly1420Ser
ENST00000370096.7:c.4222G>A	ENSP00000359114.3:p.Gly1408Ser
ENST00000512756.5:c.3874G>A	ENSP00000426533.1:p.Gly1292Ser
ENST00000635193.1:c.3556G>A
NM_001190709.1:c.4105G>A	NP_001177638.1:p.Gly1369Ser
NM_001854.3:c.4222G>A	NP_001845.3:p.Gly1408Ser
NM_080629.2:c.4258G>A	NP_542196.2:p.Gly1420Ser
NM_080630.3:c.3874G>A	NP_542197.3:p.Gly1292Ser
XM_011540719.1:c.4222G>A	XP_011539021.1:p.Gly1408Ser
XM_011540720.1:c.2455G>A	XP_011539022.1:p.Gly819Ser
XM_011540721.1:c.1810G>A	XP_011539023.1:p.Gly604Ser
NR_134980.1:n.4556G>A
XM_017000334.1:c.4375G>A	XP_016855823.1:p.Gly1459Ser
XM_017000335.1:c.4369G>A	XP_016855824.1:p.Gly1457Ser
XM_017000336.1:c.4375G>A	XP_016855825.1:p.Gly1459Ser
XM_017000337.1:c.2773G>A	XP_016855826.1:p.Gly925Ser
NM_001854.4:c.4222G>A MANE Select	NP_001845.3:p.Gly1408Ser
NM_080630.4:c.3874G>A	NP_542197.3:p.Gly1292Ser
NR_134980.2:n.4582G>A
NM_001190709.2:c.4105G>A	NP_001177638.1:p.Gly1369Ser
NM_080629.3:c.4258G>A	NP_542196.2:p.Gly1420Ser