Canonical Allele Identifier: CA349845804
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919918
ClinVar RCV Id: RCV001178388 RCV003633559
dbSNP Id: rs1688621770
gnomAD v4: 2-189007567-A-G
MyVariant Identifiers: chr2:g.189872293A>G (hg19) chr2:g.189007567A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007567A>G , CM000664.2:g.189007567A>G GRCh38
NC_000002.11:g.189872293A>G , CM000664.1:g.189872293A>G GRCh37
NC_000002.10:g.189580538A>G NCBI36
NG_007404.1:g.38195A>G , LRG_3:g.38195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3224A>G ENSP00000415346.2:p.His1075Arg
ENST00000304636.9:c.3323A>G MANE Select ENSP00000304408.4:p.His1108Arg
ENST00000304636.7:c.3323A>G ENSP00000304408.3:p.His1108Arg
ENST00000317840.9:c.2528-487A>G ENSP00000315243.6:n.2528-487A>G
NM_000090.3:c.3323A>G , LRG_3t1:c.3323A>G NP_000081.1:p.His1108Arg
NM_000090.4:c.3323A>G MANE Select NP_000081.2:p.His1108Arg
Search 100 bp 5'
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