Canonical Allele Identifier: CA1315397403
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992241C= , CM000664.2:g.188992241C= GRCh38
NC_000002.11:g.189856967C= , CM000664.1:g.189856967C= GRCh37
NC_000002.10:g.189565212C= NCBI36
NG_007404.1:g.22869C= , LRG_3:g.22869C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.996+13C= ENSP00000415346.2:n.996+13C=
ENST00000304636.9:c.996+13C= MANE Select ENSP00000304408.4:n.996+13C=
ENST00000304636.7:c.996+13C= ENSP00000304408.3:n.996+13C=
ENST00000317840.9:c.996+13C= ENSP00000315243.6:n.996+13C=
ENST00000450867.1:c.94+13C=
NM_000090.3:c.996+13C= , LRG_3t1:c.996+13C= NP_000081.1:n.996+13C=
NM_000090.4:c.996+13C= MANE Select NP_000081.2:n.996+13C=