Canonical Allele Identifier: CA076288
Gene: COL3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189009204A>G
GRCh37 chr2:g.189873930A>G
Revel Score:
ENST00000304636 (MANE Select) 0.716
ENST00000317840 0.716
gnomAD v2:
2:189873930 A / G
gnomAD v4:
chr2-189009204-A-G
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV002310843
RCV002518682
ClinVar Variation:
263525
dbSNP:
751092650
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189009204A>G , CM000664.2:g.189009204A>G GRCh38
NC_000002.11:g.189873930A>G , CM000664.1:g.189873930A>G GRCh37
NC_000002.10:g.189582175A>G NCBI36
NG_007404.1:g.39832A>G , LRG_3:g.39832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3707A>G ENSP00000415346.2:p.His1236Arg
ENST00000304636.9:c.3806A>G MANE Select ENSP00000304408.4:p.His1269Arg
ENST00000304636.7:c.3806A>G ENSP00000304408.3:p.His1269Arg
ENST00000317840.9:c.2897A>G ENSP00000315243.6:p.His966Arg
ENST00000487010.1:n.903A>G
NM_000090.3:c.3806A>G , LRG_3t1:c.3806A>G NP_000081.1:p.His1269Arg
NM_000090.4:c.3806A>G MANE Select NP_000081.2:p.His1269Arg
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