Canonical Allele Identifier: CA341162977

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 451111
• ClinVar RCV Id: RCV000734465
• dbSNP Id: rs779028602
• gnomAD v2: 1-103444293-C-T
• gnomAD v3: 1-102978737-C-T
• gnomAD v4: 1-102978737-C-T
• COSMIC: COSM4539938 ; COSM4539939
• MyVariant Identifiers: chr1:g.103444293C>T (hg19) ; chr1:g.102978737C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978737C>T , CM000663.2:g.102978737C>T	GRCh38
NC_000001.10:g.103444293C>T , CM000663.1:g.103444293C>T	GRCh37
NC_000001.9:g.103216881C>T	NCBI36
NG_008033.1:g.134760G>A
NG_008033.2:g.134760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2725G>A MANE Select	ENSP00000359114.3:p.Asp909Asn
ENST00000353414.8:c.2608G>A	ENSP00000302551.6:p.Asp870Asn
ENST00000358392.6:c.2761G>A	ENSP00000351163.2:p.Asp921Asn
ENST00000370096.7:c.2725G>A	ENSP00000359114.3:p.Asp909Asn
ENST00000512756.5:c.2377G>A	ENSP00000426533.1:p.Asp793Asn
ENST00000635193.1:c.2059G>A
NM_001190709.1:c.2608G>A	NP_001177638.1:p.Asp870Asn
NM_001854.3:c.2725G>A	NP_001845.3:p.Asp909Asn
NM_080629.2:c.2761G>A	NP_542196.2:p.Asp921Asn
NM_080630.3:c.2377G>A	NP_542197.3:p.Asp793Asn
XM_011540719.1:c.2725G>A	XP_011539021.1:p.Asp909Asn
XM_011540720.1:c.958G>A	XP_011539022.1:p.Asp320Asn
XM_011540721.1:c.313G>A	XP_011539023.1:p.Asp105Asn
XR_946545.1:n.3139G>A
NR_134980.1:n.3059G>A
XM_017000334.1:c.2878G>A	XP_016855823.1:p.Asp960Asn
XM_017000335.1:c.2872G>A	XP_016855824.1:p.Asp958Asn
XM_017000336.1:c.2878G>A	XP_016855825.1:p.Asp960Asn
XM_017000337.1:c.1276G>A	XP_016855826.1:p.Asp426Asn
NM_001854.4:c.2725G>A MANE Select	NP_001845.3:p.Asp909Asn
NM_080630.4:c.2377G>A	NP_542197.3:p.Asp793Asn
NR_134980.2:n.3085G>A
NM_001190709.2:c.2608G>A	NP_001177638.1:p.Asp870Asn
NM_080629.3:c.2761G>A	NP_542196.2:p.Asp921Asn