Canonical Allele Identifier: CA1315398591
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994589G= , CM000664.2:g.188994589G= GRCh38
NC_000002.11:g.189859315G= , CM000664.1:g.189859315G= GRCh37
NC_000002.10:g.189567560G= NCBI36
NG_007404.1:g.25217G= , LRG_3:g.25217G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1243G= ENSP00000415346.2:p.Glu415=
ENST00000304636.9:c.1342G= MANE Select ENSP00000304408.4:p.Glu448=
ENST00000304636.7:c.1342G= ENSP00000304408.3:p.Glu448=
ENST00000317840.9:c.1342G= ENSP00000315243.6:p.Glu448=
NM_000090.3:c.1342G= , LRG_3t1:c.1342G= NP_000081.1:p.Glu448=
NM_000090.4:c.1342G= MANE Select NP_000081.2:p.Glu448=