Canonical Allele Identifier: CA973471
Gene: COL11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.102888591G>C
GRCh37 chr1:g.103354147G>C
Revel Score:
ENST00000370096 (MANE Select) 0.718
ENST00000358392 0.718
ENST00000353414 0.718
ENST00000370090 0.718
ENST00000512756 0.718
gnomAD v2:
1:103354147 G / C
gnomAD v3:
1:102888591 G / C
gnomAD v4:
chr1-102888591-G-C
Joint Max Group AF 0.00087515 (NFE)
Genomes Max Group AF 0.00035505 (NFE)
Exomes Max Group AF 0.00089932 (NFE)
ClinVar Allele:
275689
ClinVar RCV:
RCV000279813
RCV000338595
RCV001660559
ClinVar Variation:
291499
dbSNP:
140954784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102888591G>C , CM000663.2:g.102888591G>C GRCh38
NC_000001.10:g.103354147G>C , CM000663.1:g.103354147G>C GRCh37
NC_000001.9:g.103126735G>C NCBI36
NG_008033.1:g.224906C>G
NG_008033.2:g.224906C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4594C>G MANE Select ENSP00000359114.3:p.Pro1532Ala
ENST00000353414.8:c.4477C>G ENSP00000302551.6:p.Pro1493Ala
ENST00000358392.6:c.4630C>G ENSP00000351163.2:p.Pro1544Ala
ENST00000370096.7:c.4594C>G ENSP00000359114.3:p.Pro1532Ala
ENST00000512756.5:c.4246C>G ENSP00000426533.1:p.Pro1416Ala
ENST00000635193.1:c.3928C>G
NM_001190709.1:c.4477C>G NP_001177638.1:p.Pro1493Ala
NM_001854.3:c.4594C>G NP_001845.3:p.Pro1532Ala
NM_080629.2:c.4630C>G NP_542196.2:p.Pro1544Ala
NM_080630.3:c.4246C>G NP_542197.3:p.Pro1416Ala
XM_011540720.1:c.2827C>G XP_011539022.1:p.Pro943Ala
XM_011540721.1:c.2182C>G XP_011539023.1:p.Pro728Ala
NR_134980.1:n.4928C>G
XM_017000334.1:c.4747C>G XP_016855823.1:p.Pro1583Ala
XM_017000335.1:c.4741C>G XP_016855824.1:p.Pro1581Ala
XM_017000337.1:c.3145C>G XP_016855826.1:p.Pro1049Ala
NM_001854.4:c.4594C>G MANE Select NP_001845.3:p.Pro1532Ala
NM_080630.4:c.4246C>G NP_542197.3:p.Pro1416Ala
NR_134980.2:n.4954C>G
NM_001190709.2:c.4477C>G NP_001177638.1:p.Pro1493Ala
NM_080629.3:c.4630C>G NP_542196.2:p.Pro1544Ala
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