Canonical Allele Identifier: CA2825001057
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074478
ClinVar RCV Id: RCV004014012
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004147A>G , CM000664.2:g.189004147A>G GRCh38
NC_000002.11:g.189868873A>G , CM000664.1:g.189868873A>G GRCh37
NC_000002.10:g.189577118A>G NCBI36
NG_007404.1:g.34775A>G , LRG_3:g.34775A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2724+4A>G ENSP00000415346.2:n.2724+4A>G
ENST00000304636.9:c.2823+4A>G MANE Select ENSP00000304408.4:n.2823+4A>G
ENST00000304636.7:c.2823+4A>G ENSP00000304408.3:n.2823+4A>G
ENST00000317840.9:c.2527+1111A>G ENSP00000315243.6:n.2527+1111A>G
NM_000090.3:c.2823+4A>G , LRG_3t1:c.2823+4A>G NP_000081.1:n.2823+4A>G
NM_000090.4:c.2823+4A>G MANE Select NP_000081.2:n.2823+4A>G
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