Canonical Allele Identifier: CA2662311406
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189008875-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008875T>C , CM000664.2:g.189008875T>C GRCh38
NC_000002.11:g.189873601T>C , CM000664.1:g.189873601T>C GRCh37
NC_000002.10:g.189581846T>C NCBI36
NG_007404.1:g.39503T>C , LRG_3:g.39503T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3427-49T>C ENSP00000415346.2:n.3427-49T>C
ENST00000304636.9:c.3526-49T>C MANE Select ENSP00000304408.4:n.3526-49T>C
ENST00000304636.7:c.3526-49T>C ENSP00000304408.3:n.3526-49T>C
ENST00000317840.9:c.2617-49T>C ENSP00000315243.6:n.2617-49T>C
ENST00000487010.1:n.574T>C
NM_000090.3:c.3526-49T>C , LRG_3t1:c.3526-49T>C NP_000081.1:n.3526-49T>C
NM_000090.4:c.3526-49T>C MANE Select NP_000081.2:n.3526-49T>C
Search 100 bp 5'
Search 100 bp 3'