Canonical Allele Identifier: CA10607188

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291481
• ClinVar RCV Id: RCV000277591 ; RCV000331347
• dbSNP Id: rs143875783
• gnomAD v2: 1-103342766-G-A
• gnomAD v3: 1-102877210-G-A
• gnomAD v4: 1-102877210-G-A
• MyVariant Identifiers: chr1:g.103342766G>A (hg19) ; chr1:g.102877210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102877210G>A , CM000663.2:g.102877210G>A	GRCh38
NC_000001.10:g.103342766G>A , CM000663.1:g.103342766G>A	GRCh37
NC_000001.9:g.103115354G>A	NCBI36
NG_008033.1:g.236287C>T
NG_008033.2:g.236287C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.*809C>T MANE Select	ENSP00000359114.3:n.*809C>T
ENST00000353414.8:c.*809C>T	ENSP00000302551.6:n.*809C>T
ENST00000358392.6:c.*809C>T	ENSP00000351163.2:n.*809C>T
ENST00000370096.7:c.*809C>T	ENSP00000359114.3:n.*809C>T
NM_001190709.1:c.*809C>T	NP_001177638.1:n.*809C>T
NM_001854.3:c.*809C>T	NP_001845.3:n.*809C>T
NM_080629.2:c.*809C>T	NP_542196.2:n.*809C>T
NM_080630.3:c.*809C>T	NP_542197.3:n.*809C>T
XM_011540720.1:c.*809C>T	XP_011539022.1:n.*809C>T
XM_011540721.1:c.*809C>T	XP_011539023.1:n.*809C>T
NR_134980.1:n.6564C>T
XM_017000334.1:c.*809C>T	XP_016855823.1:n.*809C>T
NM_001854.4:c.*809C>T MANE Select	NP_001845.3:n.*809C>T
NM_080630.4:c.*809C>T	NP_542197.3:n.*809C>T
NR_134980.2:n.6590C>T
NM_001190709.2:c.*809C>T	NP_001177638.1:n.*809C>T
NM_080629.3:c.*809C>T	NP_542196.2:n.*809C>T