Canonical Allele Identifier: CA1315400958
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999454T= , CM000664.2:g.188999454T= GRCh38
NC_000002.11:g.189864180T= , CM000664.1:g.189864180T= GRCh37
NC_000002.10:g.189572425T= NCBI36
NG_007404.1:g.30082T= , LRG_3:g.30082T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2023-16T= ENSP00000415346.2:n.2023-16T=
ENST00000304636.9:c.2122-16T= MANE Select ENSP00000304408.4:n.2122-16T=
ENST00000304636.7:c.2122-16T= ENSP00000304408.3:n.2122-16T=
ENST00000317840.9:c.2122-16T= ENSP00000315243.6:n.2122-16T=
NM_000090.3:c.2122-16T= , LRG_3t1:c.2122-16T= NP_000081.1:n.2122-16T=
NM_000090.4:c.2122-16T= MANE Select NP_000081.2:n.2122-16T=