Canonical Allele Identifier: CA2646803936

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102961794-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961794C>A , CM000663.2:g.102961794C>A	GRCh38
NC_000001.10:g.103427350C>A , CM000663.1:g.103427350C>A	GRCh37
NC_000001.9:g.103199938C>A	NCBI36
NG_008033.1:g.151703G>T
NG_008033.2:g.151703G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3168+72G>T MANE Select	ENSP00000359114.3:n.3168+72G>T
ENST00000353414.8:c.3051+72G>T	ENSP00000302551.6:n.3051+72G>T
ENST00000358392.6:c.3204+72G>T	ENSP00000351163.2:n.3204+72G>T
ENST00000370096.7:c.3168+72G>T	ENSP00000359114.3:n.3168+72G>T
ENST00000465209.1:n.248G>T
ENST00000512756.5:c.2820+72G>T	ENSP00000426533.1:n.2820+72G>T
ENST00000635193.1:c.2502+72G>T
NM_001190709.1:c.3051+72G>T	NP_001177638.1:n.3051+72G>T
NM_001854.3:c.3168+72G>T	NP_001845.3:n.3168+72G>T
NM_080629.2:c.3204+72G>T	NP_542196.2:n.3204+72G>T
NM_080630.3:c.2820+72G>T	NP_542197.3:n.2820+72G>T
XM_011540719.1:c.3168+72G>T	XP_011539021.1:n.3168+72G>T
XM_011540720.1:c.1401+72G>T	XP_011539022.1:n.1401+72G>T
XM_011540721.1:c.756+72G>T	XP_011539023.1:n.756+72G>T
NR_134980.1:n.3502+72G>T
XM_017000334.1:c.3321+72G>T	XP_016855823.1:n.3321+72G>T
XM_017000335.1:c.3315+72G>T	XP_016855824.1:n.3315+72G>T
XM_017000336.1:c.3321+72G>T	XP_016855825.1:n.3321+72G>T
XM_017000337.1:c.1719+72G>T	XP_016855826.1:n.1719+72G>T
NM_001854.4:c.3168+72G>T MANE Select	NP_001845.3:n.3168+72G>T
NM_080630.4:c.2820+72G>T	NP_542197.3:n.2820+72G>T
NR_134980.2:n.3528+72G>T
NM_001190709.2:c.3051+72G>T	NP_001177638.1:n.3051+72G>T
NM_080629.3:c.3204+72G>T	NP_542196.2:n.3204+72G>T