Canonical Allele Identifier: CA004979
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101305
ClinVar RCV Id: RCV000087543
dbSNP Id: rs587779591

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999349G>A , CM000664.2:g.188999349G>A GRCh38
NC_000002.11:g.189864075G>A , CM000664.1:g.189864075G>A GRCh37
NC_000002.10:g.189572320G>A NCBI36
NG_007404.1:g.29977G>A , LRG_3:g.29977G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1988G>A ENSP00000415346.2:p.Gly663Asp
ENST00000304636.9:c.2087G>A MANE Select ENSP00000304408.4:p.Gly696Asp
ENST00000304636.7:c.2087G>A ENSP00000304408.3:p.Gly696Asp
ENST00000317840.9:c.2087G>A ENSP00000315243.6:p.Gly696Asp
NM_000090.3:c.2087G>A , LRG_3t1:c.2087G>A NP_000081.1:p.Gly696Asp
NM_000090.4:c.2087G>A MANE Select NP_000081.2:p.Gly696Asp