Canonical Allele Identifier: CA1315406306
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010678G= , CM000664.2:g.189010678G= GRCh38
NC_000002.11:g.189875404G= , CM000664.1:g.189875404G= GRCh37
NC_000002.10:g.189583649G= NCBI36
NG_007404.1:g.41306G= , LRG_3:g.41306G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3943G= ENSP00000415346.2:p.Asp1315=
ENST00000304636.9:c.4042G= MANE Select ENSP00000304408.4:p.Asp1348=
ENST00000304636.7:c.4042G= ENSP00000304408.3:p.Asp1348=
ENST00000317840.9:c.3133G= ENSP00000315243.6:p.Asp1045=
ENST00000487010.1:n.1421G=
NM_000090.3:c.4042G= , LRG_3t1:c.4042G= NP_000081.1:p.Asp1348=
NM_000090.4:c.4042G= MANE Select NP_000081.2:p.Asp1348=