Canonical Allele Identifier: CA349842419
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189001438G>C , CM000664.2:g.189001438G>C GRCh38
NC_000002.11:g.189866164G>C , CM000664.1:g.189866164G>C GRCh37
NC_000002.10:g.189574409G>C NCBI36
NG_007404.1:g.32066G>C , LRG_3:g.32066G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2226G>C ENSP00000415346.2:p.Gln742His
ENST00000304636.9:c.2325G>C MANE Select ENSP00000304408.4:p.Gln775His
ENST00000304636.7:c.2325G>C ENSP00000304408.3:p.Gln775His
ENST00000317840.9:c.2325G>C ENSP00000315243.6:p.Gln775His
NM_000090.3:c.2325G>C , LRG_3t1:c.2325G>C NP_000081.1:p.Gln775His
NM_000090.4:c.2325G>C MANE Select NP_000081.2:p.Gln775His