Canonical Allele Identifier: CA203356

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 198301
• ClinVar RCV Id: RCV000179579 ; RCV000306668 ; RCV000364746 ; RCV000897631 ; RCV004020151
• dbSNP Id: rs145901197
• ExAC: 1:103354472 T / C
• gnomAD v2: 1-103354472-T-C
• gnomAD v3: 1-102888916-T-C
• gnomAD v4: 1-102888916-T-C
• MyVariant Identifiers: chr1:g.103354472T>C (hg19) ; chr1:g.102888916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102888916T>C , CM000663.2:g.102888916T>C	GRCh38
NC_000001.10:g.103354472T>C , CM000663.1:g.103354472T>C	GRCh37
NC_000001.9:g.103127060T>C	NCBI36
NG_008033.1:g.224581A>G
NG_008033.2:g.224581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4468A>G MANE Select	ENSP00000359114.3:p.Ile1490Val
ENST00000353414.8:c.4351A>G	ENSP00000302551.6:p.Ile1451Val
ENST00000358392.6:c.4504A>G	ENSP00000351163.2:p.Ile1502Val
ENST00000370096.7:c.4468A>G	ENSP00000359114.3:p.Ile1490Val
ENST00000512756.5:c.4120A>G	ENSP00000426533.1:p.Ile1374Val
ENST00000635193.1:c.3802A>G
NM_001190709.1:c.4351A>G	NP_001177638.1:p.Ile1451Val
NM_001854.3:c.4468A>G	NP_001845.3:p.Ile1490Val
NM_080629.2:c.4504A>G	NP_542196.2:p.Ile1502Val
NM_080630.3:c.4120A>G	NP_542197.3:p.Ile1374Val
XM_011540720.1:c.2701A>G	XP_011539022.1:p.Ile901Val
XM_011540721.1:c.2056A>G	XP_011539023.1:p.Ile686Val
NR_134980.1:n.4802A>G
XM_017000334.1:c.4621A>G	XP_016855823.1:p.Ile1541Val
XM_017000335.1:c.4615A>G	XP_016855824.1:p.Ile1539Val
XM_017000337.1:c.3019A>G	XP_016855826.1:p.Ile1007Val
NM_001854.4:c.4468A>G MANE Select	NP_001845.3:p.Ile1490Val
NM_080630.4:c.4120A>G	NP_542197.3:p.Ile1374Val
NR_134980.2:n.4828A>G
NM_001190709.2:c.4351A>G	NP_001177638.1:p.Ile1451Val
NM_080629.3:c.4504A>G	NP_542196.2:p.Ile1502Val