Canonical Allele Identifier: CA974462

Gene: COL11A1

Linked Data

• dbSNP Id: rs749863147
• ExAC: 1:103455130 A / T
• gnomAD v2: 1-103455130-A-T
• gnomAD v4: 1-102989574-A-T
• MyVariant Identifiers: chr1:g.103455130A>T (hg19) ; chr1:g.102989574A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989574A>T , CM000663.2:g.102989574A>T	GRCh38
NC_000001.10:g.103455130A>T , CM000663.1:g.103455130A>T	GRCh37
NC_000001.9:g.103227718A>T	NCBI36
NG_008033.1:g.123923T>A
NG_008033.2:g.123923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2341-3T>A MANE Select	ENSP00000359114.3:n.2341-3T>A
ENST00000353414.8:c.2224-3T>A	ENSP00000302551.6:n.2224-3T>A
ENST00000358392.6:c.2377-3T>A	ENSP00000351163.2:n.2377-3T>A
ENST00000370096.7:c.2341-3T>A	ENSP00000359114.3:n.2341-3T>A
ENST00000512756.5:c.1993-3T>A	ENSP00000426533.1:n.1993-3T>A
ENST00000635193.1:c.1659-3T>A
NM_001190709.1:c.2224-3T>A	NP_001177638.1:n.2224-3T>A
NM_001854.3:c.2341-3T>A	NP_001845.3:n.2341-3T>A
NM_080629.2:c.2377-3T>A	NP_542196.2:n.2377-3T>A
NM_080630.3:c.1993-3T>A	NP_542197.3:n.1993-3T>A
XM_011540719.1:c.2341-3T>A	XP_011539021.1:n.2341-3T>A
XM_011540720.1:c.574-3T>A	XP_011539022.1:n.574-3T>A
XM_011540721.1:c.-88-3T>A	XP_011539023.1:n.-88-3T>A
XR_946545.1:n.2739-3T>A
NR_134980.1:n.2659-3T>A
XM_017000334.1:c.2494-3T>A	XP_016855823.1:n.2494-3T>A
XM_017000335.1:c.2488-3T>A	XP_016855824.1:n.2488-3T>A
XM_017000336.1:c.2494-3T>A	XP_016855825.1:n.2494-3T>A
XM_017000337.1:c.892-3T>A	XP_016855826.1:n.892-3T>A
NM_001854.4:c.2341-3T>A MANE Select	NP_001845.3:n.2341-3T>A
NM_080630.4:c.1993-3T>A	NP_542197.3:n.1993-3T>A
NR_134980.2:n.2685-3T>A
NM_001190709.2:c.2224-3T>A	NP_001177638.1:n.2224-3T>A
NM_080629.3:c.2377-3T>A	NP_542196.2:n.2377-3T>A