Canonical Allele Identifier: CA1040413915
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1688652818
gnomAD v3: 2-189008852-G-A
gnomAD v4: 2-189008852-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008852G>A , CM000664.2:g.189008852G>A GRCh38
NC_000002.11:g.189873578G>A , CM000664.1:g.189873578G>A GRCh37
NC_000002.10:g.189581823G>A NCBI36
NG_007404.1:g.39480G>A , LRG_3:g.39480G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3427-72G>A ENSP00000415346.2:n.3427-72G>A
ENST00000304636.9:c.3526-72G>A MANE Select ENSP00000304408.4:n.3526-72G>A
ENST00000304636.7:c.3526-72G>A ENSP00000304408.3:n.3526-72G>A
ENST00000317840.9:c.2617-72G>A ENSP00000315243.6:n.2617-72G>A
ENST00000487010.1:n.551G>A
NM_000090.3:c.3526-72G>A , LRG_3t1:c.3526-72G>A NP_000081.1:n.3526-72G>A
NM_000090.4:c.3526-72G>A MANE Select NP_000081.2:n.3526-72G>A
Search 100 bp 5'
Search 100 bp 3'