Canonical Allele Identifier: CA349844231
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004118G>T , CM000664.2:g.189004118G>T GRCh38
NC_000002.11:g.189868844G>T , CM000664.1:g.189868844G>T GRCh37
NC_000002.10:g.189577089G>T NCBI36
NG_007404.1:g.34746G>T , LRG_3:g.34746G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2699G>T ENSP00000415346.2:p.Gly900Val
ENST00000304636.9:c.2798G>T MANE Select ENSP00000304408.4:p.Gly933Val
ENST00000304636.7:c.2798G>T ENSP00000304408.3:p.Gly933Val
ENST00000317840.9:c.2527+1082G>T ENSP00000315243.6:n.2527+1082G>T
NM_000090.3:c.2798G>T , LRG_3t1:c.2798G>T NP_000081.1:p.Gly933Val
NM_000090.4:c.2798G>T MANE Select NP_000081.2:p.Gly933Val