Canonical Allele Identifier: CA1315405383
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1688650319

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008698T>C , CM000664.2:g.189008698T>C GRCh38
NC_000002.11:g.189873424T>C , CM000664.1:g.189873424T>C GRCh37
NC_000002.10:g.189581669T>C NCBI36
NG_007404.1:g.39326T>C , LRG_3:g.39326T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3427-226T>C ENSP00000415346.2:n.3427-226T>C
ENST00000304636.9:c.3526-226T>C MANE Select ENSP00000304408.4:n.3526-226T>C
ENST00000304636.7:c.3526-226T>C ENSP00000304408.3:n.3526-226T>C
ENST00000317840.9:c.2617-226T>C ENSP00000315243.6:n.2617-226T>C
ENST00000487010.1:n.397T>C
NM_000090.3:c.3526-226T>C , LRG_3t1:c.3526-226T>C NP_000081.1:n.3526-226T>C
NM_000090.4:c.3526-226T>C MANE Select NP_000081.2:n.3526-226T>C