Canonical Allele Identifier: CA247598

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 198777
• ClinVar RCV Id: RCV000180223 ; RCV000401943 ; RCV000302249 ; RCV000724098 ; RCV004539694
• dbSNP Id: rs144884147
• ExAC: 1:103488522 C / G
• gnomAD v2: 1-103488522-C-G
• gnomAD v3: 1-103022966-C-G
• gnomAD v4: 1-103022966-C-G
• MyVariant Identifiers: chr1:g.103488522C>G (hg19) ; chr1:g.103022966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103022966C>G , CM000663.2:g.103022966C>G	GRCh38
NC_000001.10:g.103488522C>G , CM000663.1:g.103488522C>G	GRCh37
NC_000001.9:g.103261110C>G	NCBI36
NG_008033.1:g.90531G>C
NG_008033.2:g.90531G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1021G>C MANE Select	ENSP00000359114.3:p.Glu341Gln
ENST00000461720.6:c.1174G>C	ENSP00000494909.1:p.Glu392Gln
ENST00000644186.1:c.1021G>C	ENSP00000493821.1:p.Glu341Gln
ENST00000645458.1:c.1021G>C	ENSP00000494179.1:p.Glu341Gln
ENST00000647280.1:c.1021G>C	ENSP00000494583.1:p.Glu341Gln
ENST00000353414.8:c.904G>C	ENSP00000302551.6:p.Glu302Gln
ENST00000358392.6:c.1057G>C	ENSP00000351163.2:p.Glu353Gln
ENST00000370096.7:c.1021G>C	ENSP00000359114.3:p.Glu341Gln
ENST00000427239.5:c.1057G>C	ENSP00000408640.1:p.Glu353Gln
ENST00000512756.5:c.898-1197G>C	ENSP00000426533.1:n.898-1197G>C
ENST00000635193.1:c.339G>C
NM_001190709.1:c.904G>C	NP_001177638.1:p.Glu302Gln
NM_001854.3:c.1021G>C	NP_001845.3:p.Glu341Gln
NM_080629.2:c.1057G>C	NP_542196.2:p.Glu353Gln
NM_080630.3:c.898-1197G>C	NP_542197.3:n.898-1197G>C
XM_011540719.1:c.1021G>C	XP_011539021.1:p.Glu341Gln
XM_011540721.1:c.-1408G>C	XP_011539023.1:n.-1408G>C
XR_946545.1:n.1419G>C
NR_134980.1:n.1339G>C
XM_017000334.1:c.1174G>C	XP_016855823.1:p.Glu392Gln
XM_017000335.1:c.1168G>C	XP_016855824.1:p.Glu390Gln
XM_017000336.1:c.1174G>C	XP_016855825.1:p.Glu392Gln
XM_017000337.1:c.-475G>C	XP_016855826.1:n.-475G>C
NM_001854.4:c.1021G>C MANE Select	NP_001845.3:p.Glu341Gln
NM_080630.4:c.898-1197G>C	NP_542197.3:n.898-1197G>C
NR_134980.2:n.1365G>C
NM_001190709.2:c.904G>C	NP_001177638.1:p.Glu302Gln
NM_080629.3:c.1057G>C	NP_542196.2:p.Glu353Gln