Canonical Allele Identifier: CA1315403140
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004249T= , CM000664.2:g.189004249T= GRCh38
NC_000002.11:g.189868975T= , CM000664.1:g.189868975T= GRCh37
NC_000002.10:g.189577220T= NCBI36
NG_007404.1:g.34877T= , LRG_3:g.34877T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2725-8T= ENSP00000415346.2:n.2725-8T=
ENST00000304636.9:c.2824-8T= MANE Select ENSP00000304408.4:n.2824-8T=
ENST00000304636.7:c.2824-8T= ENSP00000304408.3:n.2824-8T=
ENST00000317840.9:c.2527+1213T= ENSP00000315243.6:n.2527+1213T=
NM_000090.3:c.2824-8T= , LRG_3t1:c.2824-8T= NP_000081.1:n.2824-8T=
NM_000090.4:c.2824-8T= MANE Select NP_000081.2:n.2824-8T=