Canonical Allele Identifier: CA1315398201
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993740C= , CM000664.2:g.188993740C= GRCh38
NC_000002.11:g.189858466C= , CM000664.1:g.189858466C= GRCh37
NC_000002.10:g.189566711C= NCBI36
NG_007404.1:g.24368C= , LRG_3:g.24368C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-298C= ENSP00000415346.2:n.1051-298C=
ENST00000304636.9:c.1149+281C= MANE Select ENSP00000304408.4:n.1149+281C=
ENST00000304636.7:c.1149+281C= ENSP00000304408.3:n.1149+281C=
ENST00000317840.9:c.1149+281C= ENSP00000315243.6:n.1149+281C=
ENST00000450867.1:c.149-298C=
NM_000090.3:c.1149+281C= , LRG_3t1:c.1149+281C= NP_000081.1:n.1149+281C=
NM_000090.4:c.1149+281C= MANE Select NP_000081.2:n.1149+281C=