Canonical Allele Identifier: CA006425
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101484
dbSNP Id: rs587779715

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008089G>C , CM000664.2:g.189008089G>C GRCh38
NC_000002.11:g.189872815G>C , CM000664.1:g.189872815G>C GRCh37
NC_000002.10:g.189581060G>C NCBI36
NG_007404.1:g.38717G>C , LRG_3:g.38717G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3373G>C ENSP00000415346.2:p.Gly1125Arg
ENST00000304636.9:c.3472G>C MANE Select ENSP00000304408.4:p.Gly1158Arg
ENST00000304636.7:c.3472G>C ENSP00000304408.3:p.Gly1158Arg
ENST00000317840.9:c.2563G>C ENSP00000315243.6:p.Gly855Arg
NM_000090.3:c.3472G>C , LRG_3t1:c.3472G>C NP_000081.1:p.Gly1158Arg
NM_000090.4:c.3472G>C MANE Select NP_000081.2:p.Gly1158Arg