Canonical Allele Identifier: CA430312564
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189870144T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005418T>G , CM000664.2:g.189005418T>G GRCh38
NC_000002.11:g.189870144T>G , CM000664.1:g.189870144T>G GRCh37
NC_000002.10:g.189578389T>G NCBI36
NG_007404.1:g.36046T>G , LRG_3:g.36046T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2901T>G ENSP00000415346.2:p.Leu967=
ENST00000304636.9:c.3000T>G MANE Select ENSP00000304408.4:p.Leu1000=
ENST00000304636.7:c.3000T>G ENSP00000304408.3:p.Leu1000=
ENST00000317840.9:c.2527+2382T>G ENSP00000315243.6:n.2527+2382T>G
NM_000090.3:c.3000T>G , LRG_3t1:c.3000T>G NP_000081.1:p.Leu1000=
NM_000090.4:c.3000T>G MANE Select NP_000081.2:p.Leu1000=
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