Canonical Allele Identifier: CA762196712
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs560761781
gnomAD v3: 2-188996030-T-A
gnomAD v4: 2-188996030-T-A
MyVariant Identifiers: chr2:g.189860756T>A (hg19) chr2:g.188996030T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996030T>A , CM000664.2:g.188996030T>A GRCh38
NC_000002.11:g.189860756T>A , CM000664.1:g.189860756T>A GRCh37
NC_000002.10:g.189569001T>A NCBI36
NG_007404.1:g.26658T>A , LRG_3:g.26658T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1510-95T>A ENSP00000415346.2:n.1510-95T>A
ENST00000304636.9:c.1609-95T>A MANE Select ENSP00000304408.4:n.1609-95T>A
ENST00000304636.7:c.1609-95T>A ENSP00000304408.3:n.1609-95T>A
ENST00000317840.9:c.1609-95T>A ENSP00000315243.6:n.1609-95T>A
NM_000090.3:c.1609-95T>A , LRG_3t1:c.1609-95T>A NP_000081.1:n.1609-95T>A
NM_000090.4:c.1609-95T>A MANE Select NP_000081.2:n.1609-95T>A
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