Canonical Allele Identifier: CA973675

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 514876
• ClinVar RCV Id: RCV003892368
• dbSNP Id: rs137999403
• ExAC: 1:103364554 T / C
• gnomAD v2: 1-103364554-T-C
• gnomAD v3: 1-102898998-T-C
• gnomAD v4: 1-102898998-T-C
• MyVariant Identifiers: chr1:g.103364554T>C (hg19) ; chr1:g.102898998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102898998T>C , CM000663.2:g.102898998T>C	GRCh38
NC_000001.10:g.103364554T>C , CM000663.1:g.103364554T>C	GRCh37
NC_000001.9:g.103137142T>C	NCBI36
NG_008033.1:g.214499A>G
NG_008033.2:g.214499A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.4087-4A>G MANE Select	ENSP00000359114.3:n.4087-4A>G
ENST00000353414.8:c.3970-4A>G	ENSP00000302551.6:n.3970-4A>G
ENST00000358392.6:c.4123-4A>G	ENSP00000351163.2:n.4123-4A>G
ENST00000370096.7:c.4087-4A>G	ENSP00000359114.3:n.4087-4A>G
ENST00000512756.5:c.3739-4A>G	ENSP00000426533.1:n.3739-4A>G
ENST00000635193.1:c.3421-4A>G
NM_001190709.1:c.3970-4A>G	NP_001177638.1:n.3970-4A>G
NM_001854.3:c.4087-4A>G	NP_001845.3:n.4087-4A>G
NM_080629.2:c.4123-4A>G	NP_542196.2:n.4123-4A>G
NM_080630.3:c.3739-4A>G	NP_542197.3:n.3739-4A>G
XM_011540719.1:c.4087-4A>G	XP_011539021.1:n.4087-4A>G
XM_011540720.1:c.2320-4A>G	XP_011539022.1:n.2320-4A>G
XM_011540721.1:c.1675-4A>G	XP_011539023.1:n.1675-4A>G
NR_134980.1:n.4421-4A>G
XM_017000334.1:c.4240-4A>G	XP_016855823.1:n.4240-4A>G
XM_017000335.1:c.4234-4A>G	XP_016855824.1:n.4234-4A>G
XM_017000336.1:c.4240-4A>G	XP_016855825.1:n.4240-4A>G
XM_017000337.1:c.2638-4A>G	XP_016855826.1:n.2638-4A>G
NM_001854.4:c.4087-4A>G MANE Select	NP_001845.3:n.4087-4A>G
NM_080630.4:c.3739-4A>G	NP_542197.3:n.3739-4A>G
NR_134980.2:n.4447-4A>G
NM_001190709.2:c.3970-4A>G	NP_001177638.1:n.3970-4A>G
NM_080629.3:c.4123-4A>G	NP_542196.2:n.4123-4A>G