Canonical Allele Identifier: CA430312561
Gene: COL3A1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2901T>C ENSP00000415346.2:p.Leu967=
ENST00000304636.9:c.3000T>C MANE Select ENSP00000304408.4:p.Leu1000=
ENST00000304636.7:c.3000T>C ENSP00000304408.3:p.Leu1000=
ENST00000317840.9:c.2527+2382T>C ENSP00000315243.6:n.2527+2382T>C
NM_000090.3:c.3000T>C , LRG_3t1:c.3000T>C NP_000081.1:p.Leu1000=
NM_000090.4:c.3000T>C MANE Select NP_000081.2:p.Leu1000=
Search 100 bp 5'
Search 100 bp 3'