Canonical Allele Identifier: CA1315398010
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs368332534

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993326T>G , CM000664.2:g.188993326T>G GRCh38
NC_000002.11:g.189858052T>G , CM000664.1:g.189858052T>G GRCh37
NC_000002.10:g.189566297T>G NCBI36
NG_007404.1:g.23954T>G , LRG_3:g.23954T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1050+386T>G ENSP00000415346.2:n.1050+386T>G
ENST00000304636.9:c.1051-35T>G MANE Select ENSP00000304408.4:n.1051-35T>G
ENST00000304636.7:c.1051-35T>G ENSP00000304408.3:n.1051-35T>G
ENST00000317840.9:c.1051-35T>G ENSP00000315243.6:n.1051-35T>G
ENST00000450867.1:c.148+386T>G
NM_000090.3:c.1051-35T>G , LRG_3t1:c.1051-35T>G NP_000081.1:n.1051-35T>G
NM_000090.4:c.1051-35T>G MANE Select NP_000081.2:n.1051-35T>G