Canonical Allele Identifier: CA075177
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs757063827
ExAC: 2:189866078 G / A
gnomAD v2: 2-189866078-G-A
gnomAD v3: 2-189001352-G-A
gnomAD v4: 2-189001352-G-A
MyVariant Identifiers: chr2:g.189866078G>A (hg19) chr2:g.189001352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189001352G>A , CM000664.2:g.189001352G>A GRCh38
NC_000002.11:g.189866078G>A , CM000664.1:g.189866078G>A GRCh37
NC_000002.10:g.189574323G>A NCBI36
NG_007404.1:g.31980G>A , LRG_3:g.31980G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2185-45G>A ENSP00000415346.2:n.2185-45G>A
ENST00000304636.9:c.2284-45G>A MANE Select ENSP00000304408.4:n.2284-45G>A
ENST00000304636.7:c.2284-45G>A ENSP00000304408.3:n.2284-45G>A
ENST00000317840.9:c.2284-45G>A ENSP00000315243.6:n.2284-45G>A
NM_000090.3:c.2284-45G>A , LRG_3t1:c.2284-45G>A NP_000081.1:n.2284-45G>A
NM_000090.4:c.2284-45G>A MANE Select NP_000081.2:n.2284-45G>A
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