Canonical Allele Identifier: CA1315396672
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188990129C= , CM000664.2:g.188990129C= GRCh38
NC_000002.11:g.189854855C= , CM000664.1:g.189854855C= GRCh37
NC_000002.10:g.189563100C= NCBI36
NG_007404.1:g.20757C= , LRG_3:g.20757C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.724C= ENSP00000415346.2:p.Arg242=
ENST00000304636.9:c.724C= MANE Select ENSP00000304408.4:p.Arg242=
ENST00000304636.7:c.724C= ENSP00000304408.3:p.Arg242=
ENST00000317840.9:c.724C= ENSP00000315243.6:p.Arg242=
NM_000090.3:c.724C= , LRG_3t1:c.724C= NP_000081.1:p.Arg242=
NM_000090.4:c.724C= MANE Select NP_000081.2:p.Arg242=