Canonical Allele Identifier: CA075958
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2181790
ClinVar RCV Id: RCV002595837
dbSNP Id: rs780302065
ExAC: 2:189871734 T / G
gnomAD v2: 2-189871734-T-G
gnomAD v4: 2-189007008-T-G
MyVariant Identifiers: chr2:g.189871734T>G (hg19) chr2:g.189007008T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007008T>G , CM000664.2:g.189007008T>G GRCh38
NC_000002.11:g.189871734T>G , CM000664.1:g.189871734T>G GRCh37
NC_000002.10:g.189579979T>G NCBI36
NG_007404.1:g.37636T>G , LRG_3:g.37636T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3156+18T>G ENSP00000415346.2:n.3156+18T>G
ENST00000304636.9:c.3255+18T>G MANE Select ENSP00000304408.4:n.3255+18T>G
ENST00000304636.7:c.3255+18T>G ENSP00000304408.3:n.3255+18T>G
ENST00000317840.9:c.2528-1046T>G ENSP00000315243.6:n.2528-1046T>G
NM_000090.3:c.3255+18T>G , LRG_3t1:c.3255+18T>G NP_000081.1:n.3255+18T>G
NM_000090.4:c.3255+18T>G MANE Select NP_000081.2:n.3255+18T>G
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