Canonical Allele Identifier: CA349851056
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993446C>G , CM000664.2:g.188993446C>G GRCh38
NC_000002.11:g.189858172C>G , CM000664.1:g.189858172C>G GRCh37
NC_000002.10:g.189566417C>G NCBI36
NG_007404.1:g.24074C>G , LRG_3:g.24074C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1050+506C>G ENSP00000415346.2:n.1050+506C>G
ENST00000304636.9:c.1136C>G MANE Select ENSP00000304408.4:p.Ala379Gly
ENST00000304636.7:c.1136C>G ENSP00000304408.3:p.Ala379Gly
ENST00000317840.9:c.1136C>G ENSP00000315243.6:p.Ala379Gly
ENST00000450867.1:c.148+506C>G
NM_000090.3:c.1136C>G , LRG_3t1:c.1136C>G NP_000081.1:p.Ala379Gly
NM_000090.4:c.1136C>G MANE Select NP_000081.2:p.Ala379Gly