Canonical Allele Identifier: CA005577
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199733
ClinVar RCV Id: RCV000181099 RCV000778020 RCV000810829 RCV002485187
dbSNP Id: rs761469859
ExAC: 2:189868711 A / T
gnomAD v2: 2-189868711-A-T
gnomAD v3: 2-189003985-A-T
gnomAD v4: 2-189003985-A-T
MyVariant Identifiers: chr2:g.189868711A>T (hg19) chr2:g.189003985A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003985A>T , CM000664.2:g.189003985A>T GRCh38
NC_000002.11:g.189868711A>T , CM000664.1:g.189868711A>T GRCh37
NC_000002.10:g.189576956A>T NCBI36
NG_007404.1:g.34613A>T , LRG_3:g.34613A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2566A>T ENSP00000415346.2:p.Asn856Tyr
ENST00000304636.9:c.2665A>T MANE Select ENSP00000304408.4:p.Asn889Tyr
ENST00000304636.7:c.2665A>T ENSP00000304408.3:p.Asn889Tyr
ENST00000317840.9:c.2527+949A>T ENSP00000315243.6:n.2527+949A>T
NM_000090.3:c.2665A>T , LRG_3t1:c.2665A>T NP_000081.1:p.Asn889Tyr
NM_000090.4:c.2665A>T MANE Select NP_000081.2:p.Asn889Tyr
Search 100 bp 5'
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