Canonical Allele Identifier: CA2646805851

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102989468-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989468T>G , CM000663.2:g.102989468T>G	GRCh38
NC_000001.10:g.103455024T>G , CM000663.1:g.103455024T>G	GRCh37
NC_000001.9:g.103227612T>G	NCBI36
NG_008033.1:g.124029A>C
NG_008033.2:g.124029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2394+50A>C MANE Select	ENSP00000359114.3:n.2394+50A>C
ENST00000353414.8:c.2277+50A>C	ENSP00000302551.6:n.2277+50A>C
ENST00000358392.6:c.2430+50A>C	ENSP00000351163.2:n.2430+50A>C
ENST00000370096.7:c.2394+50A>C	ENSP00000359114.3:n.2394+50A>C
ENST00000512756.5:c.2046+50A>C	ENSP00000426533.1:n.2046+50A>C
ENST00000635193.1:c.1712+50A>C
NM_001190709.1:c.2277+50A>C	NP_001177638.1:n.2277+50A>C
NM_001854.3:c.2394+50A>C	NP_001845.3:n.2394+50A>C
NM_080629.2:c.2430+50A>C	NP_542196.2:n.2430+50A>C
NM_080630.3:c.2046+50A>C	NP_542197.3:n.2046+50A>C
XM_011540719.1:c.2394+50A>C	XP_011539021.1:n.2394+50A>C
XM_011540720.1:c.627+50A>C	XP_011539022.1:n.627+50A>C
XM_011540721.1:c.-35+50A>C	XP_011539023.1:n.-35+50A>C
XR_946545.1:n.2792+50A>C
NR_134980.1:n.2712+50A>C
XM_017000334.1:c.2547+50A>C	XP_016855823.1:n.2547+50A>C
XM_017000335.1:c.2541+50A>C	XP_016855824.1:n.2541+50A>C
XM_017000336.1:c.2547+50A>C	XP_016855825.1:n.2547+50A>C
XM_017000337.1:c.945+50A>C	XP_016855826.1:n.945+50A>C
NM_001854.4:c.2394+50A>C MANE Select	NP_001845.3:n.2394+50A>C
NM_080630.4:c.2046+50A>C	NP_542197.3:n.2046+50A>C
NR_134980.2:n.2738+50A>C
NM_001190709.2:c.2277+50A>C	NP_001177638.1:n.2277+50A>C
NM_080629.3:c.2430+50A>C	NP_542196.2:n.2430+50A>C