Canonical Allele Identifier: CA884733995

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1364141
• ClinVar RCV Id: RCV001937363
• dbSNP Id: rs1485078930
• gnomAD v4: 1-102979113-G-A
• MyVariant Identifiers: chr1:g.103444669G>A (hg19) ; chr1:g.102979113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979113G>A , CM000663.2:g.102979113G>A	GRCh38
NC_000001.10:g.103444669G>A , CM000663.1:g.103444669G>A	GRCh37
NC_000001.9:g.103217257G>A	NCBI36
NG_008033.1:g.134384C>T
NG_008033.2:g.134384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2611-9C>T MANE Select	ENSP00000359114.3:n.2611-9C>T
ENST00000353414.8:c.2494-9C>T	ENSP00000302551.6:n.2494-9C>T
ENST00000358392.6:c.2647-9C>T	ENSP00000351163.2:n.2647-9C>T
ENST00000370096.7:c.2611-9C>T	ENSP00000359114.3:n.2611-9C>T
ENST00000512756.5:c.2263-9C>T	ENSP00000426533.1:n.2263-9C>T
ENST00000635193.1:c.1945-9C>T
NM_001190709.1:c.2494-9C>T	NP_001177638.1:n.2494-9C>T
NM_001854.3:c.2611-9C>T	NP_001845.3:n.2611-9C>T
NM_080629.2:c.2647-9C>T	NP_542196.2:n.2647-9C>T
NM_080630.3:c.2263-9C>T	NP_542197.3:n.2263-9C>T
XM_011540719.1:c.2611-9C>T	XP_011539021.1:n.2611-9C>T
XM_011540720.1:c.844-9C>T	XP_011539022.1:n.844-9C>T
XM_011540721.1:c.199-9C>T	XP_011539023.1:n.199-9C>T
XR_946545.1:n.3025-9C>T
NR_134980.1:n.2945-9C>T
XM_017000334.1:c.2764-9C>T	XP_016855823.1:n.2764-9C>T
XM_017000335.1:c.2758-9C>T	XP_016855824.1:n.2758-9C>T
XM_017000336.1:c.2764-9C>T	XP_016855825.1:n.2764-9C>T
XM_017000337.1:c.1162-9C>T	XP_016855826.1:n.1162-9C>T
NM_001854.4:c.2611-9C>T MANE Select	NP_001845.3:n.2611-9C>T
NM_080630.4:c.2263-9C>T	NP_542197.3:n.2263-9C>T
NR_134980.2:n.2971-9C>T
NM_001190709.2:c.2494-9C>T	NP_001177638.1:n.2494-9C>T
NM_080629.3:c.2647-9C>T	NP_542196.2:n.2647-9C>T