Canonical Allele Identifier: CA074520
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083273
ClinVar RCV Id: RCV003002405
dbSNP Id: rs758686893
ExAC: 2:189860920 A / C
gnomAD v2: 2-189860920-A-C
gnomAD v3: 2-188996194-A-C
gnomAD v4: 2-188996194-A-C
MyVariant Identifiers: chr2:g.189860920A>C (hg19) chr2:g.188996194A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996194A>C , CM000664.2:g.188996194A>C GRCh38
NC_000002.11:g.189860920A>C , CM000664.1:g.189860920A>C GRCh37
NC_000002.10:g.189569165A>C NCBI36
NG_007404.1:g.26822A>C , LRG_3:g.26822A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1563+16A>C ENSP00000415346.2:n.1563+16A>C
ENST00000304636.9:c.1662+16A>C MANE Select ENSP00000304408.4:n.1662+16A>C
ENST00000304636.7:c.1662+16A>C ENSP00000304408.3:n.1662+16A>C
ENST00000317840.9:c.1662+16A>C ENSP00000315243.6:n.1662+16A>C
NM_000090.3:c.1662+16A>C , LRG_3t1:c.1662+16A>C NP_000081.1:n.1662+16A>C
NM_000090.4:c.1662+16A>C MANE Select NP_000081.2:n.1662+16A>C
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