Canonical Allele Identifier: CA974978

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291535
• ClinVar RCV Id: RCV000275597 ; RCV000330638 ; RCV000494431
• dbSNP Id: rs149558726
• ExAC: 1:103481285 C / T
• gnomAD v2: 1-103481285-C-T
• gnomAD v3: 1-103015729-C-T
• gnomAD v4: 1-103015729-C-T
• MyVariant Identifiers: chr1:g.103481285C>T (hg19) ; chr1:g.103015729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103015729C>T , CM000663.2:g.103015729C>T	GRCh38
NC_000001.10:g.103481285C>T , CM000663.1:g.103481285C>T	GRCh37
NC_000001.9:g.103253873C>T	NCBI36
NG_008033.1:g.97768G>A
NG_008033.2:g.97768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1427G>A MANE Select	ENSP00000359114.3:p.Arg476His
ENST00000461720.6:c.1580G>A	ENSP00000494909.1:p.Arg527His
ENST00000644186.1:c.1427G>A	ENSP00000493821.1:p.Arg476His
ENST00000645458.1:c.1427G>A	ENSP00000494179.1:p.Arg476His
ENST00000647280.1:c.1427G>A	ENSP00000494583.1:p.Arg476His
ENST00000353414.8:c.1310G>A	ENSP00000302551.6:p.Arg437His
ENST00000358392.6:c.1463G>A	ENSP00000351163.2:p.Arg488His
ENST00000370096.7:c.1427G>A	ENSP00000359114.3:p.Arg476His
ENST00000427239.5:c.1463G>A	ENSP00000408640.1:p.Arg488His
ENST00000512756.5:c.1079G>A	ENSP00000426533.1:p.Arg360His
ENST00000635193.1:c.745G>A
NM_001190709.1:c.1310G>A	NP_001177638.1:p.Arg437His
NM_001854.3:c.1427G>A	NP_001845.3:p.Arg476His
NM_080629.2:c.1463G>A	NP_542196.2:p.Arg488His
NM_080630.3:c.1079G>A	NP_542197.3:p.Arg360His
XM_011540719.1:c.1427G>A	XP_011539021.1:p.Arg476His
XM_011540721.1:c.-1002G>A	XP_011539023.1:n.-1002G>A
XR_946545.1:n.1825G>A
NR_134980.1:n.1745G>A
XM_017000334.1:c.1580G>A	XP_016855823.1:p.Arg527His
XM_017000335.1:c.1574G>A	XP_016855824.1:p.Arg525His
XM_017000336.1:c.1580G>A	XP_016855825.1:p.Arg527His
XM_017000337.1:c.-69G>A	XP_016855826.1:n.-69G>A
NM_001854.4:c.1427G>A MANE Select	NP_001845.3:p.Arg476His
NM_080630.4:c.1079G>A	NP_542197.3:p.Arg360His
NR_134980.2:n.1771G>A
NM_001190709.2:c.1310G>A	NP_001177638.1:p.Arg437His
NM_080629.3:c.1463G>A	NP_542196.2:p.Arg488His