Canonical Allele Identifier: CA974096

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2999997
• ClinVar RCV Id: RCV003857172
• dbSNP Id: rs750226345
• ExAC: 1:103412486 T / C
• gnomAD v2: 1-103412486-T-C
• gnomAD v3: 1-102946930-T-C
• gnomAD v4: 1-102946930-T-C
• MyVariant Identifiers: chr1:g.103412486T>C (hg19) ; chr1:g.102946930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946930T>C , CM000663.2:g.102946930T>C	GRCh38
NC_000001.10:g.103412486T>C , CM000663.1:g.103412486T>C	GRCh37
NC_000001.9:g.103185074T>C	NCBI36
NG_008033.1:g.166567A>G
NG_008033.2:g.166567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3195A>G MANE Select	ENSP00000359114.3:p.Ala1065=
ENST00000353414.8:c.3078A>G	ENSP00000302551.6:p.Ala1026=
ENST00000358392.6:c.3231A>G	ENSP00000351163.2:p.Ala1077=
ENST00000370096.7:c.3195A>G	ENSP00000359114.3:p.Ala1065=
ENST00000512756.5:c.2847A>G	ENSP00000426533.1:p.Ala949=
ENST00000635193.1:c.2529A>G
NM_001190709.1:c.3078A>G	NP_001177638.1:p.Ala1026=
NM_001854.3:c.3195A>G	NP_001845.3:p.Ala1065=
NM_080629.2:c.3231A>G	NP_542196.2:p.Ala1077=
NM_080630.3:c.2847A>G	NP_542197.3:p.Ala949=
XM_011540719.1:c.3195A>G	XP_011539021.1:p.Ala1065=
XM_011540720.1:c.1428A>G	XP_011539022.1:p.Ala476=
XM_011540721.1:c.783A>G	XP_011539023.1:p.Ala261=
NR_134980.1:n.3529A>G
XM_017000334.1:c.3348A>G	XP_016855823.1:p.Ala1116=
XM_017000335.1:c.3342A>G	XP_016855824.1:p.Ala1114=
XM_017000336.1:c.3348A>G	XP_016855825.1:p.Ala1116=
XM_017000337.1:c.1746A>G	XP_016855826.1:p.Ala582=
NM_001854.4:c.3195A>G MANE Select	NP_001845.3:p.Ala1065=
NM_080630.4:c.2847A>G	NP_542197.3:p.Ala949=
NR_134980.2:n.3555A>G
NM_001190709.2:c.3078A>G	NP_001177638.1:p.Ala1026=
NM_080629.3:c.3231A>G	NP_542196.2:p.Ala1077=