Canonical Allele Identifier: CA1315398833
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188995086T= , CM000664.2:g.188995086T= GRCh38
NC_000002.11:g.189859812T= , CM000664.1:g.189859812T= GRCh37
NC_000002.10:g.189568057T= NCBI36
NG_007404.1:g.25714T= , LRG_3:g.25714T=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1397T= ENSP00000415346.2:p.Ile466=
ENST00000304636.9:c.1496T= MANE Select ENSP00000304408.4:p.Ile499=
ENST00000304636.7:c.1496T= ENSP00000304408.3:p.Ile499=
ENST00000317840.9:c.1496T= ENSP00000315243.6:p.Ile499=
NM_000090.3:c.1496T= , LRG_3t1:c.1496T= NP_000081.1:p.Ile499=
NM_000090.4:c.1496T= MANE Select NP_000081.2:p.Ile499=