Canonical Allele Identifier: CA349844582
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004325G>C , CM000664.2:g.189004325G>C GRCh38
NC_000002.11:g.189869051G>C , CM000664.1:g.189869051G>C GRCh37
NC_000002.10:g.189577296G>C NCBI36
NG_007404.1:g.34953G>C , LRG_3:g.34953G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2793G>C ENSP00000415346.2:p.Met931Ile
ENST00000304636.9:c.2892G>C MANE Select ENSP00000304408.4:p.Met964Ile
ENST00000304636.7:c.2892G>C ENSP00000304408.3:p.Met964Ile
ENST00000317840.9:c.2527+1289G>C ENSP00000315243.6:n.2527+1289G>C
NM_000090.3:c.2892G>C , LRG_3t1:c.2892G>C NP_000081.1:p.Met964Ile
NM_000090.4:c.2892G>C MANE Select NP_000081.2:p.Met964Ile