Canonical Allele Identifier: CA281108

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 39776
• ClinVar RCV Id: RCV000032995 ; RCV000579344 ; RCV000623510 ; RCV002468558 ; RCV003313929
• dbSNP Id: rs398122828
• gnomAD v4: 1-102915630-C-T
• COSMIC: COSM5037447 ; COSM5037448
• MyVariant Identifiers: chr1:g.103381186C>T (hg19) ; chr1:g.102915630C>T (hg38)
• PubMed: PMID:9129742 ; PMID:9529347 ; PMID:9792885 ; PMID:13520885 ; PMID:17236192 ; PMID:19449424 ; PMID:21035103 ; PMID:21668896 ; PMID:25240749

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102915630C>T , CM000663.2:g.102915630C>T	GRCh38
NC_000001.10:g.103381186C>T , CM000663.1:g.103381186C>T	GRCh37
NC_000001.9:g.103153774C>T	NCBI36
NG_008033.1:g.197867G>A
NG_008033.2:g.197867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3816+1G>A MANE Select	ENSP00000359114.3:n.3816+1G>A
ENST00000353414.8:c.3699+1G>A	ENSP00000302551.6:n.3699+1G>A
ENST00000358392.6:c.3852+1G>A	ENSP00000351163.2:n.3852+1G>A
ENST00000370096.7:c.3816+1G>A	ENSP00000359114.3:n.3816+1G>A
ENST00000512756.5:c.3468+1G>A	ENSP00000426533.1:n.3468+1G>A
ENST00000635193.1:c.3150+1G>A
NM_001190709.1:c.3699+1G>A	NP_001177638.1:n.3699+1G>A
NM_001854.3:c.3816+1G>A	NP_001845.3:n.3816+1G>A
NM_080629.2:c.3852+1G>A	NP_542196.2:n.3852+1G>A
NM_080630.3:c.3468+1G>A	NP_542197.3:n.3468+1G>A
XM_011540719.1:c.3816+1G>A	XP_011539021.1:n.3816+1G>A
XM_011540720.1:c.2049+1G>A	XP_011539022.1:n.2049+1G>A
XM_011540721.1:c.1404+1G>A	XP_011539023.1:n.1404+1G>A
NR_134980.1:n.4150+1G>A
XM_017000334.1:c.3969+1G>A	XP_016855823.1:n.3969+1G>A
XM_017000335.1:c.3963+1G>A	XP_016855824.1:n.3963+1G>A
XM_017000336.1:c.3969+1G>A	XP_016855825.1:n.3969+1G>A
XM_017000337.1:c.2367+1G>A	XP_016855826.1:n.2367+1G>A
NM_001854.4:c.3816+1G>A MANE Select	NP_001845.3:n.3816+1G>A
NM_080630.4:c.3468+1G>A	NP_542197.3:n.3468+1G>A
NR_134980.2:n.4176+1G>A
NM_001190709.2:c.3699+1G>A	NP_001177638.1:n.3699+1G>A
NM_080629.3:c.3852+1G>A	NP_542196.2:n.3852+1G>A