Canonical Allele Identifier: CA62555285
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs929296363
gnomAD v2: 2-189865362-G-A
gnomAD v3: 2-189000636-G-A
gnomAD v4: 2-189000636-G-A
MyVariant Identifiers: chr2:g.189865362G>A (hg19) chr2:g.189000636G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189000636G>A , CM000664.2:g.189000636G>A GRCh38
NC_000002.11:g.189865362G>A , CM000664.1:g.189865362G>A GRCh37
NC_000002.10:g.189573607G>A NCBI36
NG_007404.1:g.31264G>A , LRG_3:g.31264G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2184+741G>A ENSP00000415346.2:n.2184+741G>A
ENST00000304636.9:c.2283+741G>A MANE Select ENSP00000304408.4:n.2283+741G>A
ENST00000304636.7:c.2283+741G>A ENSP00000304408.3:n.2283+741G>A
ENST00000317840.9:c.2283+741G>A ENSP00000315243.6:n.2283+741G>A
NM_000090.3:c.2283+741G>A , LRG_3t1:c.2283+741G>A NP_000081.1:n.2283+741G>A
NM_000090.4:c.2283+741G>A MANE Select NP_000081.2:n.2283+741G>A
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