Canonical Allele Identifier: CA10607203

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291475
• ClinVar RCV Id: RCV000280687 ; RCV000319615
• dbSNP Id: rs538679983
• gnomAD v3: 1-102876792-A-T
• gnomAD v4: 1-102876792-A-T
• MyVariant Identifiers: chr1:g.103342348A>T (hg19) ; chr1:g.102876792A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102876792A>T , CM000663.2:g.102876792A>T	GRCh38
NC_000001.10:g.103342348A>T , CM000663.1:g.103342348A>T	GRCh37
NC_000001.9:g.103114936A>T	NCBI36
NG_008033.1:g.236705T>A
NG_008033.2:g.236705T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.*1227T>A MANE Select	ENSP00000359114.3:n.*1227T>A
ENST00000353414.8:c.*1227T>A	ENSP00000302551.6:n.*1227T>A
ENST00000358392.6:c.*1227T>A	ENSP00000351163.2:n.*1227T>A
ENST00000370096.7:c.*1227T>A	ENSP00000359114.3:n.*1227T>A
NM_001190709.1:c.*1227T>A	NP_001177638.1:n.*1227T>A
NM_001854.3:c.*1227T>A	NP_001845.3:n.*1227T>A
NM_080629.2:c.*1227T>A	NP_542196.2:n.*1227T>A
NM_080630.3:c.*1227T>A	NP_542197.3:n.*1227T>A
XM_011540720.1:c.*1227T>A	XP_011539022.1:n.*1227T>A
XM_011540721.1:c.*1227T>A	XP_011539023.1:n.*1227T>A
NR_134980.1:n.6982T>A
XM_017000334.1:c.*1227T>A	XP_016855823.1:n.*1227T>A
NM_001854.4:c.*1227T>A MANE Select	NP_001845.3:n.*1227T>A
NM_080630.4:c.*1227T>A	NP_542197.3:n.*1227T>A
NR_134980.2:n.7008T>A
NM_001190709.2:c.*1227T>A	NP_001177638.1:n.*1227T>A
NM_080629.3:c.*1227T>A	NP_542196.2:n.*1227T>A