Canonical Allele Identifier: CA349842801
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189867732A>C (hg19) chr2:g.189003006A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003006A>C , CM000664.2:g.189003006A>C GRCh38
NC_000002.11:g.189867732A>C , CM000664.1:g.189867732A>C GRCh37
NC_000002.10:g.189575977A>C NCBI36
NG_007404.1:g.33634A>C , LRG_3:g.33634A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2398A>C ENSP00000415346.2:p.Lys800Gln
ENST00000304636.9:c.2497A>C MANE Select ENSP00000304408.4:p.Lys833Gln
ENST00000304636.7:c.2497A>C ENSP00000304408.3:p.Lys833Gln
ENST00000317840.9:c.2497A>C ENSP00000315243.6:p.Lys833Gln
NM_000090.3:c.2497A>C , LRG_3t1:c.2497A>C NP_000081.1:p.Lys833Gln
NM_000090.4:c.2497A>C MANE Select NP_000081.2:p.Lys833Gln
Search 100 bp 5'
Search 100 bp 3'