Canonical Allele Identifier: CA1315398021
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993348G= , CM000664.2:g.188993348G= GRCh38
NC_000002.11:g.189858074G= , CM000664.1:g.189858074G= GRCh37
NC_000002.10:g.189566319G= NCBI36
NG_007404.1:g.23976G= , LRG_3:g.23976G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+408G= ENSP00000415346.2:n.1050+408G=
ENST00000304636.9:c.1051-13G= MANE Select ENSP00000304408.4:n.1051-13G=
ENST00000304636.7:c.1051-13G= ENSP00000304408.3:n.1051-13G=
ENST00000317840.9:c.1051-13G= ENSP00000315243.6:n.1051-13G=
ENST00000450867.1:c.148+408G=
NM_000090.3:c.1051-13G= , LRG_3t1:c.1051-13G= NP_000081.1:n.1051-13G=
NM_000090.4:c.1051-13G= MANE Select NP_000081.2:n.1051-13G=