Canonical Allele Identifier: CA203356
Gene: COL11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.102888916T>C
GRCh37 chr1:g.103354472T>C
Revel Score:
ENST00000370096 (MANE Select) 0.253
ENST00000358392 0.253
ENST00000353414 0.253
ENST00000370090 0.253
ENST00000512756 0.253
gnomAD v2:
1:103354472 T / C
gnomAD v3:
1:102888916 T / C
gnomAD v4:
chr1-102888916-T-C
Joint Max Group AF 0.00828089 (AFR)
Genomes Max Group AF 0.00831221 (AFR)
Exomes Max Group AF 0.00773848 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102888916T>C , CM000663.2:g.102888916T>C GRCh38
NC_000001.10:g.103354472T>C , CM000663.1:g.103354472T>C GRCh37
NC_000001.9:g.103127060T>C NCBI36
NG_008033.1:g.224581A>G
NG_008033.2:g.224581A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4468A>G MANE Select ENSP00000359114.3:p.Ile1490Val
ENST00000353414.8:c.4351A>G ENSP00000302551.6:p.Ile1451Val
ENST00000358392.6:c.4504A>G ENSP00000351163.2:p.Ile1502Val
ENST00000370096.7:c.4468A>G ENSP00000359114.3:p.Ile1490Val
ENST00000512756.5:c.4120A>G ENSP00000426533.1:p.Ile1374Val
ENST00000635193.1:c.3802A>G
NM_001190709.1:c.4351A>G NP_001177638.1:p.Ile1451Val
NM_001854.3:c.4468A>G NP_001845.3:p.Ile1490Val
NM_080629.2:c.4504A>G NP_542196.2:p.Ile1502Val
NM_080630.3:c.4120A>G NP_542197.3:p.Ile1374Val
XM_011540720.1:c.2701A>G XP_011539022.1:p.Ile901Val
XM_011540721.1:c.2056A>G XP_011539023.1:p.Ile686Val
NR_134980.1:n.4802A>G
XM_017000334.1:c.4621A>G XP_016855823.1:p.Ile1541Val
XM_017000335.1:c.4615A>G XP_016855824.1:p.Ile1539Val
XM_017000337.1:c.3019A>G XP_016855826.1:p.Ile1007Val
NM_001854.4:c.4468A>G MANE Select NP_001845.3:p.Ile1490Val
NM_080630.4:c.4120A>G NP_542197.3:p.Ile1374Val
NR_134980.2:n.4828A>G
NM_001190709.2:c.4351A>G NP_001177638.1:p.Ile1451Val
NM_080629.3:c.4504A>G NP_542196.2:p.Ile1502Val
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