Canonical Allele Identifier: CA974347

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1307051
• ClinVar RCV Id: RCV001772509
• dbSNP Id: rs779869745
• ExAC: 1:103444626 C / T
• gnomAD v2: 1-103444626-C-T
• gnomAD v4: 1-102979070-C-T
• MyVariant Identifiers: chr1:g.103444626C>T (hg19) ; chr1:g.102979070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979070C>T , CM000663.2:g.102979070C>T	GRCh38
NC_000001.10:g.103444626C>T , CM000663.1:g.103444626C>T	GRCh37
NC_000001.9:g.103217214C>T	NCBI36
NG_008033.1:g.134427G>A
NG_008033.2:g.134427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2645G>A MANE Select	ENSP00000359114.3:p.Arg882His
ENST00000353414.8:c.2528G>A	ENSP00000302551.6:p.Arg843His
ENST00000358392.6:c.2681G>A	ENSP00000351163.2:p.Arg894His
ENST00000370096.7:c.2645G>A	ENSP00000359114.3:p.Arg882His
ENST00000512756.5:c.2297G>A	ENSP00000426533.1:p.Arg766His
ENST00000635193.1:c.1979G>A
NM_001190709.1:c.2528G>A	NP_001177638.1:p.Arg843His
NM_001854.3:c.2645G>A	NP_001845.3:p.Arg882His
NM_080629.2:c.2681G>A	NP_542196.2:p.Arg894His
NM_080630.3:c.2297G>A	NP_542197.3:p.Arg766His
XM_011540719.1:c.2645G>A	XP_011539021.1:p.Arg882His
XM_011540720.1:c.878G>A	XP_011539022.1:p.Arg293His
XM_011540721.1:c.233G>A	XP_011539023.1:p.Arg78His
XR_946545.1:n.3059G>A
NR_134980.1:n.2979G>A
XM_017000334.1:c.2798G>A	XP_016855823.1:p.Arg933His
XM_017000335.1:c.2792G>A	XP_016855824.1:p.Arg931His
XM_017000336.1:c.2798G>A	XP_016855825.1:p.Arg933His
XM_017000337.1:c.1196G>A	XP_016855826.1:p.Arg399His
NM_001854.4:c.2645G>A MANE Select	NP_001845.3:p.Arg882His
NM_080630.4:c.2297G>A	NP_542197.3:p.Arg766His
NR_134980.2:n.3005G>A
NM_001190709.2:c.2528G>A	NP_001177638.1:p.Arg843His
NM_080629.3:c.2681G>A	NP_542196.2:p.Arg894His