Canonical Allele Identifier: CA974068

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 258457
• ClinVar RCV Id: RCV000242571 ; RCV000322167 ; RCV000264812 ; RCV000659319 ; RCV001521966
• dbSNP Id: rs371455495
• ExAC: 1:103406003 T / G
• gnomAD v2: 1-103406003-T-G
• gnomAD v3: 1-102940447-T-G
• gnomAD v4: 1-102940447-T-G
• MyVariant Identifiers: chr1:g.103406003T>G (hg19) ; chr1:g.102940447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102940447T>G , CM000663.2:g.102940447T>G	GRCh38
NC_000001.10:g.103406003T>G , CM000663.1:g.103406003T>G	GRCh37
NC_000001.9:g.103178591T>G	NCBI36
NG_008033.1:g.173050A>C
NG_008033.2:g.173050A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3277-13A>C MANE Select	ENSP00000359114.3:n.3277-13A>C
ENST00000353414.8:c.3160-13A>C	ENSP00000302551.6:n.3160-13A>C
ENST00000358392.6:c.3313-13A>C	ENSP00000351163.2:n.3313-13A>C
ENST00000370096.7:c.3277-13A>C	ENSP00000359114.3:n.3277-13A>C
ENST00000512756.5:c.2929-13A>C	ENSP00000426533.1:n.2929-13A>C
ENST00000635193.1:c.2611-13A>C
NM_001190709.1:c.3160-13A>C	NP_001177638.1:n.3160-13A>C
NM_001854.3:c.3277-13A>C	NP_001845.3:n.3277-13A>C
NM_080629.2:c.3313-13A>C	NP_542196.2:n.3313-13A>C
NM_080630.3:c.2929-13A>C	NP_542197.3:n.2929-13A>C
XM_011540719.1:c.3277-13A>C	XP_011539021.1:n.3277-13A>C
XM_011540720.1:c.1510-13A>C	XP_011539022.1:n.1510-13A>C
XM_011540721.1:c.865-13A>C	XP_011539023.1:n.865-13A>C
NR_134980.1:n.3611-13A>C
XM_017000334.1:c.3430-13A>C	XP_016855823.1:n.3430-13A>C
XM_017000335.1:c.3424-13A>C	XP_016855824.1:n.3424-13A>C
XM_017000336.1:c.3430-13A>C	XP_016855825.1:n.3430-13A>C
XM_017000337.1:c.1828-13A>C	XP_016855826.1:n.1828-13A>C
NM_001854.4:c.3277-13A>C MANE Select	NP_001845.3:n.3277-13A>C
NM_080630.4:c.2929-13A>C	NP_542197.3:n.2929-13A>C
NR_134980.2:n.3637-13A>C
NM_001190709.2:c.3160-13A>C	NP_001177638.1:n.3160-13A>C
NM_080629.3:c.3313-13A>C	NP_542196.2:n.3313-13A>C