Canonical Allele Identifier: CA1315404114
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006416C= , CM000664.2:g.189006416C= GRCh38
NC_000002.11:g.189871142C= , CM000664.1:g.189871142C= GRCh37
NC_000002.10:g.189579387C= NCBI36
NG_007404.1:g.37044C= , LRG_3:g.37044C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3066C= ENSP00000415346.2:p.Val1022=
ENST00000304636.9:c.3165C= MANE Select ENSP00000304408.4:p.Val1055=
ENST00000304636.7:c.3165C= ENSP00000304408.3:p.Val1055=
ENST00000317840.9:c.2528-1638C= ENSP00000315243.6:n.2528-1638C=
NM_000090.3:c.3165C= , LRG_3t1:c.3165C= NP_000081.1:p.Val1055=
NM_000090.4:c.3165C= MANE Select NP_000081.2:p.Val1055=