Canonical Allele Identifier: CA2662311394
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189008857-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008857A>G , CM000664.2:g.189008857A>G GRCh38
NC_000002.11:g.189873583A>G , CM000664.1:g.189873583A>G GRCh37
NC_000002.10:g.189581828A>G NCBI36
NG_007404.1:g.39485A>G , LRG_3:g.39485A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3427-67A>G ENSP00000415346.2:n.3427-67A>G
ENST00000304636.9:c.3526-67A>G MANE Select ENSP00000304408.4:n.3526-67A>G
ENST00000304636.7:c.3526-67A>G ENSP00000304408.3:n.3526-67A>G
ENST00000317840.9:c.2617-67A>G ENSP00000315243.6:n.2617-67A>G
ENST00000487010.1:n.556A>G
NM_000090.3:c.3526-67A>G , LRG_3t1:c.3526-67A>G NP_000081.1:n.3526-67A>G
NM_000090.4:c.3526-67A>G MANE Select NP_000081.2:n.3526-67A>G
Search 100 bp 5'
Search 100 bp 3'