Canonical Allele Identifier: CA973407
Gene: COL11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.102886863G>T
GRCh37 chr1:g.103352419G>T
Revel Score:
ENST00000370096 (MANE Select) 0.118
ENST00000358392 0.118
ENST00000353414 0.118
ENST00000370090 0.118
ENST00000512756 0.118
gnomAD v2:
1:103352419 G / T
gnomAD v3:
1:102886863 G / T
gnomAD v4:
chr1-102886863-G-T
Joint Max Group AF 0.00028837 (NFE)
Genomes Max Group AF 0.00018201 (NFE)
Exomes Max Group AF 0.0002898 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102886863G>T , CM000663.2:g.102886863G>T GRCh38
NC_000001.10:g.103352419G>T , CM000663.1:g.103352419G>T GRCh37
NC_000001.9:g.103125007G>T NCBI36
NG_008033.1:g.226634C>A
NG_008033.2:g.226634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4802C>A MANE Select ENSP00000359114.3:p.Thr1601Asn
ENST00000353414.8:c.4685C>A ENSP00000302551.6:p.Thr1562Asn
ENST00000358392.6:c.4838C>A ENSP00000351163.2:p.Thr1613Asn
ENST00000370096.7:c.4802C>A ENSP00000359114.3:p.Thr1601Asn
ENST00000512756.5:c.4454C>A ENSP00000426533.1:p.Thr1485Asn
ENST00000635193.1:c.4136C>A
NM_001190709.1:c.4685C>A NP_001177638.1:p.Thr1562Asn
NM_001854.3:c.4802C>A NP_001845.3:p.Thr1601Asn
NM_080629.2:c.4838C>A NP_542196.2:p.Thr1613Asn
NM_080630.3:c.4454C>A NP_542197.3:p.Thr1485Asn
XM_011540720.1:c.3035C>A XP_011539022.1:p.Thr1012Asn
XM_011540721.1:c.2390C>A XP_011539023.1:p.Thr797Asn
NR_134980.1:n.5136C>A
XM_017000334.1:c.4955C>A XP_016855823.1:p.Thr1652Asn
XM_017000335.1:c.4949C>A XP_016855824.1:p.Thr1650Asn
XM_017000337.1:c.3353C>A XP_016855826.1:p.Thr1118Asn
NM_001854.4:c.4802C>A MANE Select NP_001845.3:p.Thr1601Asn
NM_080630.4:c.4454C>A NP_542197.3:p.Thr1485Asn
NR_134980.2:n.5162C>A
NM_001190709.2:c.4685C>A NP_001177638.1:p.Thr1562Asn
NM_080629.3:c.4838C>A NP_542196.2:p.Thr1613Asn
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