Canonical Allele Identifier: CA1315405481
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008930C= , CM000664.2:g.189008930C= GRCh38
NC_000002.11:g.189873656C= , CM000664.1:g.189873656C= GRCh37
NC_000002.10:g.189581901C= NCBI36
NG_007404.1:g.39558C= , LRG_3:g.39558C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3433C= ENSP00000415346.2:p.Pro1145=
ENST00000304636.9:c.3532C= MANE Select ENSP00000304408.4:p.Pro1178=
ENST00000304636.7:c.3532C= ENSP00000304408.3:p.Pro1178=
ENST00000317840.9:c.2623C= ENSP00000315243.6:p.Pro875=
ENST00000487010.1:n.629C=
NM_000090.3:c.3532C= , LRG_3t1:c.3532C= NP_000081.1:p.Pro1178=
NM_000090.4:c.3532C= MANE Select NP_000081.2:p.Pro1178=