Canonical Allele Identifier: CA973785

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2069461
• ClinVar RCV Id: RCV002958839
• dbSNP Id: rs768566608
• ExAC: 1:103380293 C / T
• gnomAD v2: 1-103380293-C-T
• gnomAD v4: 1-102914737-C-T
• MyVariant Identifiers: chr1:g.103380293C>T (hg19) ; chr1:g.102914737C>T (hg38)
• PubMed: PMID:25961944

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914737C>T , CM000663.2:g.102914737C>T	GRCh38
NC_000001.10:g.103380293C>T , CM000663.1:g.103380293C>T	GRCh37
NC_000001.9:g.103152881C>T	NCBI36
NG_008033.1:g.198760G>A
NG_008033.2:g.198760G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3891G>A MANE Select	ENSP00000359114.3:p.Gly1297=
ENST00000353414.8:c.3774G>A	ENSP00000302551.6:p.Gly1258=
ENST00000358392.6:c.3927G>A	ENSP00000351163.2:p.Gly1309=
ENST00000370096.7:c.3891G>A	ENSP00000359114.3:p.Gly1297=
ENST00000512756.5:c.3543G>A	ENSP00000426533.1:p.Gly1181=
ENST00000635193.1:c.3225G>A
NM_001190709.1:c.3774G>A	NP_001177638.1:p.Gly1258=
NM_001854.3:c.3891G>A	NP_001845.3:p.Gly1297=
NM_080629.2:c.3927G>A	NP_542196.2:p.Gly1309=
NM_080630.3:c.3543G>A	NP_542197.3:p.Gly1181=
XM_011540719.1:c.3891G>A	XP_011539021.1:p.Gly1297=
XM_011540720.1:c.2124G>A	XP_011539022.1:p.Gly708=
XM_011540721.1:c.1479G>A	XP_011539023.1:p.Gly493=
NR_134980.1:n.4225G>A
XM_017000334.1:c.4044G>A	XP_016855823.1:p.Gly1348=
XM_017000335.1:c.4038G>A	XP_016855824.1:p.Gly1346=
XM_017000336.1:c.4044G>A	XP_016855825.1:p.Gly1348=
XM_017000337.1:c.2442G>A	XP_016855826.1:p.Gly814=
NM_001854.4:c.3891G>A MANE Select	NP_001845.3:p.Gly1297=
NM_080630.4:c.3543G>A	NP_542197.3:p.Gly1181=
NR_134980.2:n.4251G>A
NM_001190709.2:c.3774G>A	NP_001177638.1:p.Gly1258=
NM_080629.3:c.3927G>A	NP_542196.2:p.Gly1309=