Canonical Allele Identifier: CA2577185758
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189003080-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003080T>C , CM000664.2:g.189003080T>C GRCh38
NC_000002.11:g.189867806T>C , CM000664.1:g.189867806T>C GRCh37
NC_000002.10:g.189576051T>C NCBI36
NG_007404.1:g.33708T>C , LRG_3:g.33708T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2454+18T>C ENSP00000415346.2:n.2454+18T>C
ENST00000304636.9:c.2553+18T>C MANE Select ENSP00000304408.4:n.2553+18T>C
ENST00000304636.7:c.2553+18T>C ENSP00000304408.3:n.2553+18T>C
ENST00000317840.9:c.2527+44T>C ENSP00000315243.6:n.2527+44T>C
NM_000090.3:c.2553+18T>C , LRG_3t1:c.2553+18T>C NP_000081.1:n.2553+18T>C
NM_000090.4:c.2553+18T>C MANE Select NP_000081.2:n.2553+18T>C
Search 100 bp 5'
Search 100 bp 3'