Canonical Allele Identifier: CA16610602
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404267
ClinVar RCV Id: RCV000474369
dbSNP Id: rs1060500187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010187G>A , CM000664.2:g.189010187G>A GRCh38
NC_000002.11:g.189874913G>A , CM000664.1:g.189874913G>A GRCh37
NC_000002.10:g.189583158G>A NCBI36
NG_007404.1:g.40815G>A , LRG_3:g.40815G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3734G>A ENSP00000415346.2:p.Trp1245Ter
ENST00000304636.9:c.3833G>A MANE Select ENSP00000304408.4:p.Trp1278Ter
ENST00000304636.7:c.3833G>A ENSP00000304408.3:p.Trp1278Ter
ENST00000317840.9:c.2924G>A ENSP00000315243.6:p.Trp975Ter
ENST00000487010.1:n.930G>A
NM_000090.3:c.3833G>A , LRG_3t1:c.3833G>A NP_000081.1:p.Trp1278Ter
NM_000090.4:c.3833G>A MANE Select NP_000081.2:p.Trp1278Ter