Canonical Allele Identifier: CA004922
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199708
ClinVar RCV Id: RCV000541054 RCV000709865 RCV000771906 RCV002478602
dbSNP Id: rs376603102
ExAC: 2:189849609 A / G
gnomAD v2: 2-189849609-A-G
gnomAD v3: 2-188984883-A-G
gnomAD v4: 2-188984883-A-G
MyVariant Identifiers: chr2:g.189849609A>G (hg19) chr2:g.188984883A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188984883A>G , CM000664.2:g.188984883A>G GRCh38
NC_000002.11:g.189849609A>G , CM000664.1:g.189849609A>G GRCh37
NC_000002.10:g.189557854A>G NCBI36
NG_007404.1:g.15511A>G , LRG_3:g.15511A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.203A>G ENSP00000415346.2:p.Asp68Gly
ENST00000304636.9:c.203A>G MANE Select ENSP00000304408.4:p.Asp68Gly
ENST00000304636.7:c.203A>G ENSP00000304408.3:p.Asp68Gly
ENST00000317840.9:c.203A>G ENSP00000315243.6:p.Asp68Gly
ENST00000470167.1:n.299A>G
NM_000090.3:c.203A>G , LRG_3t1:c.203A>G NP_000081.1:p.Asp68Gly
NM_000090.4:c.203A>G MANE Select NP_000081.2:p.Asp68Gly
Search 100 bp 5'
Search 100 bp 3'