Canonical Allele Identifier: CA974954

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291534
• ClinVar RCV Id: RCV000324902 ; RCV000359911 ; RCV000598053
• dbSNP Id: rs370997745
• ExAC: 1:103480155 G / T
• gnomAD v2: 1-103480155-G-T
• gnomAD v3: 1-103014599-G-T
• gnomAD v4: 1-103014599-G-T
• MyVariant Identifiers: chr1:g.103480155G>T (hg19) ; chr1:g.103014599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103014599G>T , CM000663.2:g.103014599G>T	GRCh38
NC_000001.10:g.103480155G>T , CM000663.1:g.103480155G>T	GRCh37
NC_000001.9:g.103252743G>T	NCBI36
NG_008033.1:g.98898C>A
NG_008033.2:g.98898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.1489-5C>A MANE Select	ENSP00000359114.3:n.1489-5C>A
ENST00000461720.6:c.1642-5C>A	ENSP00000494909.1:n.1642-5C>A
ENST00000644186.1:c.1489-5C>A	ENSP00000493821.1:n.1489-5C>A
ENST00000645458.1:c.1489-5C>A	ENSP00000494179.1:n.1489-5C>A
ENST00000647280.1:c.1489-5C>A	ENSP00000494583.1:n.1489-5C>A
ENST00000353414.8:c.1372-5C>A	ENSP00000302551.6:n.1372-5C>A
ENST00000358392.6:c.1525-5C>A	ENSP00000351163.2:n.1525-5C>A
ENST00000370096.7:c.1489-5C>A	ENSP00000359114.3:n.1489-5C>A
ENST00000427239.5:c.1525-5C>A	ENSP00000408640.1:n.1525-5C>A
ENST00000512756.5:c.1141-5C>A	ENSP00000426533.1:n.1141-5C>A
ENST00000635193.1:c.807-5C>A
NM_001190709.1:c.1372-5C>A	NP_001177638.1:n.1372-5C>A
NM_001854.3:c.1489-5C>A	NP_001845.3:n.1489-5C>A
NM_080629.2:c.1525-5C>A	NP_542196.2:n.1525-5C>A
NM_080630.3:c.1141-5C>A	NP_542197.3:n.1141-5C>A
XM_011540719.1:c.1489-5C>A	XP_011539021.1:n.1489-5C>A
XM_011540721.1:c.-940-5C>A	XP_011539023.1:n.-940-5C>A
XR_946545.1:n.1887-5C>A
NR_134980.1:n.1807-5C>A
XM_017000334.1:c.1642-5C>A	XP_016855823.1:n.1642-5C>A
XM_017000335.1:c.1636-5C>A	XP_016855824.1:n.1636-5C>A
XM_017000336.1:c.1642-5C>A	XP_016855825.1:n.1642-5C>A
XM_017000337.1:c.-7-5C>A	XP_016855826.1:n.-7-5C>A
NM_001854.4:c.1489-5C>A MANE Select	NP_001845.3:n.1489-5C>A
NM_080630.4:c.1141-5C>A	NP_542197.3:n.1141-5C>A
NR_134980.2:n.1833-5C>A
NM_001190709.2:c.1372-5C>A	NP_001177638.1:n.1372-5C>A
NM_080629.3:c.1525-5C>A	NP_542196.2:n.1525-5C>A