Canonical Allele Identifier: CA1315402600
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003110C= , CM000664.2:g.189003110C= GRCh38
NC_000002.11:g.189867836C= , CM000664.1:g.189867836C= GRCh37
NC_000002.10:g.189576081C= NCBI36
NG_007404.1:g.33738C= , LRG_3:g.33738C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2454+48C= ENSP00000415346.2:n.2454+48C=
ENST00000304636.9:c.2553+48C= MANE Select ENSP00000304408.4:n.2553+48C=
ENST00000304636.7:c.2553+48C= ENSP00000304408.3:n.2553+48C=
ENST00000317840.9:c.2527+74C= ENSP00000315243.6:n.2527+74C=
NM_000090.3:c.2553+48C= , LRG_3t1:c.2553+48C= NP_000081.1:n.2553+48C=
NM_000090.4:c.2553+48C= MANE Select NP_000081.2:n.2553+48C=