Canonical Allele Identifier: CA973407

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 392007
• ClinVar RCV Id: RCV000439022 ; RCV000680456 ; RCV001097884 ; RCV001097885 ; RCV004022502 ; RCV004533127
• dbSNP Id: rs143206624
• ExAC: 1:103352419 G / T
• gnomAD v2: 1-103352419-G-T
• gnomAD v3: 1-102886863-G-T
• gnomAD v4: 1-102886863-G-T
• MyVariant Identifiers: chr1:g.103352419G>T (hg19) ; chr1:g.102886863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102886863G>T , CM000663.2:g.102886863G>T	GRCh38
NC_000001.10:g.103352419G>T , CM000663.1:g.103352419G>T	GRCh37
NC_000001.9:g.103125007G>T	NCBI36
NG_008033.1:g.226634C>A
NG_008033.2:g.226634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4802C>A MANE Select	ENSP00000359114.3:p.Thr1601Asn
ENST00000353414.8:c.4685C>A	ENSP00000302551.6:p.Thr1562Asn
ENST00000358392.6:c.4838C>A	ENSP00000351163.2:p.Thr1613Asn
ENST00000370096.7:c.4802C>A	ENSP00000359114.3:p.Thr1601Asn
ENST00000512756.5:c.4454C>A	ENSP00000426533.1:p.Thr1485Asn
ENST00000635193.1:c.4136C>A
NM_001190709.1:c.4685C>A	NP_001177638.1:p.Thr1562Asn
NM_001854.3:c.4802C>A	NP_001845.3:p.Thr1601Asn
NM_080629.2:c.4838C>A	NP_542196.2:p.Thr1613Asn
NM_080630.3:c.4454C>A	NP_542197.3:p.Thr1485Asn
XM_011540720.1:c.3035C>A	XP_011539022.1:p.Thr1012Asn
XM_011540721.1:c.2390C>A	XP_011539023.1:p.Thr797Asn
NR_134980.1:n.5136C>A
XM_017000334.1:c.4955C>A	XP_016855823.1:p.Thr1652Asn
XM_017000335.1:c.4949C>A	XP_016855824.1:p.Thr1650Asn
XM_017000337.1:c.3353C>A	XP_016855826.1:p.Thr1118Asn
NM_001854.4:c.4802C>A MANE Select	NP_001845.3:p.Thr1601Asn
NM_080630.4:c.4454C>A	NP_542197.3:p.Thr1485Asn
NR_134980.2:n.5162C>A
NM_001190709.2:c.4685C>A	NP_001177638.1:p.Thr1562Asn
NM_080629.3:c.4838C>A	NP_542196.2:p.Thr1613Asn