Canonical Allele Identifier: CA2662311400
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189008864-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008864T>A , CM000664.2:g.189008864T>A GRCh38
NC_000002.11:g.189873590T>A , CM000664.1:g.189873590T>A GRCh37
NC_000002.10:g.189581835T>A NCBI36
NG_007404.1:g.39492T>A , LRG_3:g.39492T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3427-60T>A ENSP00000415346.2:n.3427-60T>A
ENST00000304636.9:c.3526-60T>A MANE Select ENSP00000304408.4:n.3526-60T>A
ENST00000304636.7:c.3526-60T>A ENSP00000304408.3:n.3526-60T>A
ENST00000317840.9:c.2617-60T>A ENSP00000315243.6:n.2617-60T>A
ENST00000487010.1:n.563T>A
NM_000090.3:c.3526-60T>A , LRG_3t1:c.3526-60T>A NP_000081.1:n.3526-60T>A
NM_000090.4:c.3526-60T>A MANE Select NP_000081.2:n.3526-60T>A
Search 100 bp 5'
Search 100 bp 3'