Canonical Allele Identifier: CA341171417

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1302584
• ClinVar RCV Id: RCV001756258
• dbSNP Id: rs1234848212
• gnomAD v2: 1-103412496-C-T
• gnomAD v4: 1-102946940-C-T
• COSMIC: COSM5643891 ; COSM5643892
• MyVariant Identifiers: chr1:g.103412496C>T (hg19) ; chr1:g.102946940C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946940C>T , CM000663.2:g.102946940C>T	GRCh38
NC_000001.10:g.103412496C>T , CM000663.1:g.103412496C>T	GRCh37
NC_000001.9:g.103185084C>T	NCBI36
NG_008033.1:g.166557G>A
NG_008033.2:g.166557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3185G>A MANE Select	ENSP00000359114.3:p.Arg1062His
ENST00000353414.8:c.3068G>A	ENSP00000302551.6:p.Arg1023His
ENST00000358392.6:c.3221G>A	ENSP00000351163.2:p.Arg1074His
ENST00000370096.7:c.3185G>A	ENSP00000359114.3:p.Arg1062His
ENST00000512756.5:c.2837G>A	ENSP00000426533.1:p.Arg946His
ENST00000635193.1:c.2519G>A
NM_001190709.1:c.3068G>A	NP_001177638.1:p.Arg1023His
NM_001854.3:c.3185G>A	NP_001845.3:p.Arg1062His
NM_080629.2:c.3221G>A	NP_542196.2:p.Arg1074His
NM_080630.3:c.2837G>A	NP_542197.3:p.Arg946His
XM_011540719.1:c.3185G>A	XP_011539021.1:p.Arg1062His
XM_011540720.1:c.1418G>A	XP_011539022.1:p.Arg473His
XM_011540721.1:c.773G>A	XP_011539023.1:p.Arg258His
NR_134980.1:n.3519G>A
XM_017000334.1:c.3338G>A	XP_016855823.1:p.Arg1113His
XM_017000335.1:c.3332G>A	XP_016855824.1:p.Arg1111His
XM_017000336.1:c.3338G>A	XP_016855825.1:p.Arg1113His
XM_017000337.1:c.1736G>A	XP_016855826.1:p.Arg579His
NM_001854.4:c.3185G>A MANE Select	NP_001845.3:p.Arg1062His
NM_080630.4:c.2837G>A	NP_542197.3:p.Arg946His
NR_134980.2:n.3545G>A
NM_001190709.2:c.3068G>A	NP_001177638.1:p.Arg1023His
NM_080629.3:c.3221G>A	NP_542196.2:p.Arg1074His