Canonical Allele Identifier: CA075771
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1051468
ClinVar RCV Id: RCV002547723
dbSNP Id: rs777180110
ExAC: 2:189870145 C / G
gnomAD v2: 2-189870145-C-G
gnomAD v4: 2-189005419-C-G
MyVariant Identifiers: chr2:g.189870145C>G (hg19) chr2:g.189005419C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005419C>G , CM000664.2:g.189005419C>G GRCh38
NC_000002.11:g.189870145C>G , CM000664.1:g.189870145C>G GRCh37
NC_000002.10:g.189578390C>G NCBI36
NG_007404.1:g.36047C>G , LRG_3:g.36047C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2902C>G ENSP00000415346.2:p.Pro968Ala
ENST00000304636.9:c.3001C>G MANE Select ENSP00000304408.4:p.Pro1001Ala
ENST00000304636.7:c.3001C>G ENSP00000304408.3:p.Pro1001Ala
ENST00000317840.9:c.2527+2383C>G ENSP00000315243.6:n.2527+2383C>G
NM_000090.3:c.3001C>G , LRG_3t1:c.3001C>G NP_000081.1:p.Pro1001Ala
NM_000090.4:c.3001C>G MANE Select NP_000081.2:p.Pro1001Ala
Search 100 bp 5'
Search 100 bp 3'