Canonical Allele Identifier: CA1315402702
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003295C= , CM000664.2:g.189003295C= GRCh38
NC_000002.11:g.189868021C= , CM000664.1:g.189868021C= GRCh37
NC_000002.10:g.189576266C= NCBI36
NG_007404.1:g.33923C= , LRG_3:g.33923C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2455-116C= ENSP00000415346.2:n.2455-116C=
ENST00000304636.9:c.2554-116C= MANE Select ENSP00000304408.4:n.2554-116C=
ENST00000304636.7:c.2554-116C= ENSP00000304408.3:n.2554-116C=
ENST00000317840.9:c.2527+259C= ENSP00000315243.6:n.2527+259C=
NM_000090.3:c.2554-116C= , LRG_3t1:c.2554-116C= NP_000081.1:n.2554-116C=
NM_000090.4:c.2554-116C= MANE Select NP_000081.2:n.2554-116C=