Canonical Allele Identifier: CA973405
Gene: COL11A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.102886860T>C
GRCh37 chr1:g.103352416T>C
Revel Score:
ENST00000370096 (MANE Select) 0.247
ENST00000358392 0.247
ENST00000353414 0.247
ENST00000370090 0.247
ENST00000512756 0.247
gnomAD v2:
1:103352416 T / C
gnomAD v3:
1:102886860 T / C
gnomAD v4:
chr1-102886860-T-C
Joint Max Group AF 0.00004347 (EAS)
Exomes Max Group AF 0.00003349 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102886860T>C , CM000663.2:g.102886860T>C GRCh38
NC_000001.10:g.103352416T>C , CM000663.1:g.103352416T>C GRCh37
NC_000001.9:g.103125004T>C NCBI36
NG_008033.1:g.226637A>G
NG_008033.2:g.226637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4805A>G MANE Select ENSP00000359114.3:p.Asn1602Ser
ENST00000353414.8:c.4688A>G ENSP00000302551.6:p.Asn1563Ser
ENST00000358392.6:c.4841A>G ENSP00000351163.2:p.Asn1614Ser
ENST00000370096.7:c.4805A>G ENSP00000359114.3:p.Asn1602Ser
ENST00000512756.5:c.4457A>G ENSP00000426533.1:p.Asn1486Ser
ENST00000635193.1:c.4139A>G
NM_001190709.1:c.4688A>G NP_001177638.1:p.Asn1563Ser
NM_001854.3:c.4805A>G NP_001845.3:p.Asn1602Ser
NM_080629.2:c.4841A>G NP_542196.2:p.Asn1614Ser
NM_080630.3:c.4457A>G NP_542197.3:p.Asn1486Ser
XM_011540720.1:c.3038A>G XP_011539022.1:p.Asn1013Ser
XM_011540721.1:c.2393A>G XP_011539023.1:p.Asn798Ser
NR_134980.1:n.5139A>G
XM_017000334.1:c.4958A>G XP_016855823.1:p.Asn1653Ser
XM_017000335.1:c.4952A>G XP_016855824.1:p.Asn1651Ser
XM_017000337.1:c.3356A>G XP_016855826.1:p.Asn1119Ser
NM_001854.4:c.4805A>G MANE Select NP_001845.3:p.Asn1602Ser
NM_080630.4:c.4457A>G NP_542197.3:p.Asn1486Ser
NR_134980.2:n.5165A>G
NM_001190709.2:c.4688A>G NP_001177638.1:p.Asn1563Ser
NM_080629.3:c.4841A>G NP_542196.2:p.Asn1614Ser
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