Canonical Allele Identifier: CA1315398597
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994598A= , CM000664.2:g.188994598A= GRCh38
NC_000002.11:g.189859324A= , CM000664.1:g.189859324A= GRCh37
NC_000002.10:g.189567569A= NCBI36
NG_007404.1:g.25226A= , LRG_3:g.25226A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1248+4A= ENSP00000415346.2:n.1248+4A=
ENST00000304636.9:c.1347+4A= MANE Select ENSP00000304408.4:n.1347+4A=
ENST00000304636.7:c.1347+4A= ENSP00000304408.3:n.1347+4A=
ENST00000317840.9:c.1347+4A= ENSP00000315243.6:n.1347+4A=
NM_000090.3:c.1347+4A= , LRG_3t1:c.1347+4A= NP_000081.1:n.1347+4A=
NM_000090.4:c.1347+4A= MANE Select NP_000081.2:n.1347+4A=