Canonical Allele Identifier: CA1315406353
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010778A= , CM000664.2:g.189010778A= GRCh38
NC_000002.11:g.189875504A= , CM000664.1:g.189875504A= GRCh37
NC_000002.10:g.189583749A= NCBI36
NG_007404.1:g.41406A= , LRG_3:g.41406A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.4043A= ENSP00000415346.2:p.Gln1348=
ENST00000304636.9:c.4142A= MANE Select ENSP00000304408.4:p.Gln1381=
ENST00000304636.7:c.4142A= ENSP00000304408.3:p.Gln1381=
ENST00000317840.9:c.3233A= ENSP00000315243.6:p.Gln1078=
ENST00000487010.1:n.1521A=
NM_000090.3:c.4142A= , LRG_3t1:c.4142A= NP_000081.1:p.Gln1381=
NM_000090.4:c.4142A= MANE Select NP_000081.2:p.Gln1381=