Canonical Allele Identifier: CA2646804922

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978804-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978804T>G , CM000663.2:g.102978804T>G	GRCh38
NC_000001.10:g.103444360T>G , CM000663.1:g.103444360T>G	GRCh37
NC_000001.9:g.103216948T>G	NCBI36
NG_008033.1:g.134693A>C
NG_008033.2:g.134693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2710-52A>C MANE Select	ENSP00000359114.3:n.2710-52A>C
ENST00000353414.8:c.2593-52A>C	ENSP00000302551.6:n.2593-52A>C
ENST00000358392.6:c.2746-52A>C	ENSP00000351163.2:n.2746-52A>C
ENST00000370096.7:c.2710-52A>C	ENSP00000359114.3:n.2710-52A>C
ENST00000512756.5:c.2362-52A>C	ENSP00000426533.1:n.2362-52A>C
ENST00000635193.1:c.2044-52A>C
NM_001190709.1:c.2593-52A>C	NP_001177638.1:n.2593-52A>C
NM_001854.3:c.2710-52A>C	NP_001845.3:n.2710-52A>C
NM_080629.2:c.2746-52A>C	NP_542196.2:n.2746-52A>C
NM_080630.3:c.2362-52A>C	NP_542197.3:n.2362-52A>C
XM_011540719.1:c.2710-52A>C	XP_011539021.1:n.2710-52A>C
XM_011540720.1:c.943-52A>C	XP_011539022.1:n.943-52A>C
XM_011540721.1:c.298-52A>C	XP_011539023.1:n.298-52A>C
XR_946545.1:n.3124-52A>C
NR_134980.1:n.3044-52A>C
XM_017000334.1:c.2863-52A>C	XP_016855823.1:n.2863-52A>C
XM_017000335.1:c.2857-52A>C	XP_016855824.1:n.2857-52A>C
XM_017000336.1:c.2863-52A>C	XP_016855825.1:n.2863-52A>C
XM_017000337.1:c.1261-52A>C	XP_016855826.1:n.1261-52A>C
NM_001854.4:c.2710-52A>C MANE Select	NP_001845.3:n.2710-52A>C
NM_080630.4:c.2362-52A>C	NP_542197.3:n.2362-52A>C
NR_134980.2:n.3070-52A>C
NM_001190709.2:c.2593-52A>C	NP_001177638.1:n.2593-52A>C
NM_080629.3:c.2746-52A>C	NP_542196.2:n.2746-52A>C