Canonical Allele Identifier: CA246966

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 198360
• ClinVar RCV Id: RCV000179660 ; RCV000271060 ; RCV000357636 ; RCV000680455 ; RCV001262338 ; RCV003947529
• dbSNP Id: rs140250347
• ExAC: 1:103345315 C / T
• gnomAD v2: 1-103345315-C-T
• gnomAD v3: 1-102879759-C-T
• gnomAD v4: 1-102879759-C-T
• MyVariant Identifiers: chr1:g.103345315C>T (hg19) ; chr1:g.102879759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102879759C>T , CM000663.2:g.102879759C>T	GRCh38
NC_000001.10:g.103345315C>T , CM000663.1:g.103345315C>T	GRCh37
NC_000001.9:g.103117903C>T	NCBI36
NG_008033.1:g.233738G>A
NG_008033.2:g.233738G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.5198G>A MANE Select	ENSP00000359114.3:p.Arg1733His
ENST00000639098.1:n.571G>A
ENST00000353414.8:c.5081G>A	ENSP00000302551.6:p.Arg1694His
ENST00000358392.6:c.5234G>A	ENSP00000351163.2:p.Arg1745His
ENST00000370096.7:c.5198G>A	ENSP00000359114.3:p.Arg1733His
ENST00000470170.1:n.260G>A
ENST00000512756.5:c.4850G>A	ENSP00000426533.1:p.Arg1617His
ENST00000635193.1:c.4532G>A
NM_001190709.1:c.5081G>A	NP_001177638.1:p.Arg1694His
NM_001854.3:c.5198G>A	NP_001845.3:p.Arg1733His
NM_080629.2:c.5234G>A	NP_542196.2:p.Arg1745His
NM_080630.3:c.4850G>A	NP_542197.3:p.Arg1617His
XM_011540720.1:c.3431G>A	XP_011539022.1:p.Arg1144His
XM_011540721.1:c.2786G>A	XP_011539023.1:p.Arg929His
NR_134980.1:n.5532G>A
XM_017000334.1:c.5351G>A	XP_016855823.1:p.Arg1784His
XM_017000335.1:c.5345G>A	XP_016855824.1:p.Arg1782His
XM_017000337.1:c.3749G>A	XP_016855826.1:p.Arg1250His
NM_001854.4:c.5198G>A MANE Select	NP_001845.3:p.Arg1733His
NM_080630.4:c.4850G>A	NP_542197.3:p.Arg1617His
NR_134980.2:n.5558G>A
NM_001190709.2:c.5081G>A	NP_001177638.1:p.Arg1694His
NM_080629.3:c.5234G>A	NP_542196.2:p.Arg1745His