Canonical Allele Identifier: CA349845896
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 926901
ClinVar RCV Id: RCV001189807 RCV004010382
dbSNP Id: rs1688622334
gnomAD v3: 2-189007588-C-G
gnomAD v4: 2-189007588-C-G
MyVariant Identifiers: chr2:g.189872314C>G (hg19) chr2:g.189007588C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007588C>G , CM000664.2:g.189007588C>G GRCh38
NC_000002.11:g.189872314C>G , CM000664.1:g.189872314C>G GRCh37
NC_000002.10:g.189580559C>G NCBI36
NG_007404.1:g.38216C>G , LRG_3:g.38216C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3245C>G ENSP00000415346.2:p.Pro1082Arg
ENST00000304636.9:c.3344C>G MANE Select ENSP00000304408.4:p.Pro1115Arg
ENST00000304636.7:c.3344C>G ENSP00000304408.3:p.Pro1115Arg
ENST00000317840.9:c.2528-466C>G ENSP00000315243.6:n.2528-466C>G
NM_000090.3:c.3344C>G , LRG_3t1:c.3344C>G NP_000081.1:p.Pro1115Arg
NM_000090.4:c.3344C>G MANE Select NP_000081.2:p.Pro1115Arg
Search 100 bp 5'
Search 100 bp 3'