Canonical Allele Identifier: CA1315405480
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008929C= , CM000664.2:g.189008929C= GRCh38
NC_000002.11:g.189873655C= , CM000664.1:g.189873655C= GRCh37
NC_000002.10:g.189581900C= NCBI36
NG_007404.1:g.39557C= , LRG_3:g.39557C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3432C= ENSP00000415346.2:p.Ser1144=
ENST00000304636.9:c.3531C= MANE Select ENSP00000304408.4:p.Ser1177=
ENST00000304636.7:c.3531C= ENSP00000304408.3:p.Ser1177=
ENST00000317840.9:c.2622C= ENSP00000315243.6:p.Ser874=
ENST00000487010.1:n.628C=
NM_000090.3:c.3531C= , LRG_3t1:c.3531C= NP_000081.1:p.Ser1177=
NM_000090.4:c.3531C= MANE Select NP_000081.2:p.Ser1177=