Canonical Allele Identifier: CA349851208
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994063C>T , CM000664.2:g.188994063C>T GRCh38
NC_000002.11:g.189858789C>T , CM000664.1:g.189858789C>T GRCh37
NC_000002.10:g.189567034C>T NCBI36
NG_007404.1:g.24691C>T , LRG_3:g.24691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1076C>T ENSP00000415346.2:p.Pro359Leu
ENST00000304636.9:c.1175C>T MANE Select ENSP00000304408.4:p.Pro392Leu
ENST00000304636.7:c.1175C>T ENSP00000304408.3:p.Pro392Leu
ENST00000317840.9:c.1175C>T ENSP00000315243.6:p.Pro392Leu
ENST00000450867.1:c.174C>T
NM_000090.3:c.1175C>T , LRG_3t1:c.1175C>T NP_000081.1:p.Pro392Leu
NM_000090.4:c.1175C>T MANE Select NP_000081.2:p.Pro392Leu