Canonical Allele Identifier: CA2646804918

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102978780-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978780C>T , CM000663.2:g.102978780C>T	GRCh38
NC_000001.10:g.103444336C>T , CM000663.1:g.103444336C>T	GRCh37
NC_000001.9:g.103216924C>T	NCBI36
NG_008033.1:g.134717G>A
NG_008033.2:g.134717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2710-28G>A MANE Select	ENSP00000359114.3:n.2710-28G>A
ENST00000353414.8:c.2593-28G>A	ENSP00000302551.6:n.2593-28G>A
ENST00000358392.6:c.2746-28G>A	ENSP00000351163.2:n.2746-28G>A
ENST00000370096.7:c.2710-28G>A	ENSP00000359114.3:n.2710-28G>A
ENST00000512756.5:c.2362-28G>A	ENSP00000426533.1:n.2362-28G>A
ENST00000635193.1:c.2044-28G>A
NM_001190709.1:c.2593-28G>A	NP_001177638.1:n.2593-28G>A
NM_001854.3:c.2710-28G>A	NP_001845.3:n.2710-28G>A
NM_080629.2:c.2746-28G>A	NP_542196.2:n.2746-28G>A
NM_080630.3:c.2362-28G>A	NP_542197.3:n.2362-28G>A
XM_011540719.1:c.2710-28G>A	XP_011539021.1:n.2710-28G>A
XM_011540720.1:c.943-28G>A	XP_011539022.1:n.943-28G>A
XM_011540721.1:c.298-28G>A	XP_011539023.1:n.298-28G>A
XR_946545.1:n.3124-28G>A
NR_134980.1:n.3044-28G>A
XM_017000334.1:c.2863-28G>A	XP_016855823.1:n.2863-28G>A
XM_017000335.1:c.2857-28G>A	XP_016855824.1:n.2857-28G>A
XM_017000336.1:c.2863-28G>A	XP_016855825.1:n.2863-28G>A
XM_017000337.1:c.1261-28G>A	XP_016855826.1:n.1261-28G>A
NM_001854.4:c.2710-28G>A MANE Select	NP_001845.3:n.2710-28G>A
NM_080630.4:c.2362-28G>A	NP_542197.3:n.2362-28G>A
NR_134980.2:n.3070-28G>A
NM_001190709.2:c.2593-28G>A	NP_001177638.1:n.2593-28G>A
NM_080629.3:c.2746-28G>A	NP_542196.2:n.2746-28G>A