Canonical Allele Identifier: CA62595227
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919195
dbSNP Id: rs373858715

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994240G>C , CM000664.2:g.188994240G>C GRCh38
NC_000002.11:g.189858966G>C , CM000664.1:g.189858966G>C GRCh37
NC_000002.10:g.189567211G>C NCBI36
NG_007404.1:g.24868G>C , LRG_3:g.24868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1102G>C ENSP00000415346.2:p.Ala368Pro
ENST00000304636.9:c.1201G>C MANE Select ENSP00000304408.4:p.Ala401Pro
ENST00000304636.7:c.1201G>C ENSP00000304408.3:p.Ala401Pro
ENST00000317840.9:c.1201G>C ENSP00000315243.6:p.Ala401Pro
ENST00000450867.1:c.200G>C
NM_000090.3:c.1201G>C , LRG_3t1:c.1201G>C NP_000081.1:p.Ala401Pro
NM_000090.4:c.1201G>C MANE Select NP_000081.2:p.Ala401Pro