Canonical Allele Identifier: CA1315403122
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004219C= , CM000664.2:g.189004219C= GRCh38
NC_000002.11:g.189868945C= , CM000664.1:g.189868945C= GRCh37
NC_000002.10:g.189577190C= NCBI36
NG_007404.1:g.34847C= , LRG_3:g.34847C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2725-38C= ENSP00000415346.2:n.2725-38C=
ENST00000304636.9:c.2824-38C= MANE Select ENSP00000304408.4:n.2824-38C=
ENST00000304636.7:c.2824-38C= ENSP00000304408.3:n.2824-38C=
ENST00000317840.9:c.2527+1183C= ENSP00000315243.6:n.2527+1183C=
NM_000090.3:c.2824-38C= , LRG_3t1:c.2824-38C= NP_000081.1:n.2824-38C=
NM_000090.4:c.2824-38C= MANE Select NP_000081.2:n.2824-38C=