Canonical Allele Identifier: CA1315403671
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005419C= , CM000664.2:g.189005419C= GRCh38
NC_000002.11:g.189870145C= , CM000664.1:g.189870145C= GRCh37
NC_000002.10:g.189578390C= NCBI36
NG_007404.1:g.36047C= , LRG_3:g.36047C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2902C= ENSP00000415346.2:p.Pro968=
ENST00000304636.9:c.3001C= MANE Select ENSP00000304408.4:p.Pro1001=
ENST00000304636.7:c.3001C= ENSP00000304408.3:p.Pro1001=
ENST00000317840.9:c.2527+2383C= ENSP00000315243.6:n.2527+2383C=
NM_000090.3:c.3001C= , LRG_3t1:c.3001C= NP_000081.1:p.Pro1001=
NM_000090.4:c.3001C= MANE Select NP_000081.2:p.Pro1001=