Canonical Allele Identifier: CA076035
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2895668
ClinVar RCV Id: RCV003633972
dbSNP Id: rs745746358

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007597C>T , CM000664.2:g.189007597C>T GRCh38
NC_000002.11:g.189872323C>T , CM000664.1:g.189872323C>T GRCh37
NC_000002.10:g.189580568C>T NCBI36
NG_007404.1:g.38225C>T , LRG_3:g.38225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3254C>T ENSP00000415346.2:p.Pro1085Leu
ENST00000304636.9:c.3353C>T MANE Select ENSP00000304408.4:p.Pro1118Leu
ENST00000304636.7:c.3353C>T ENSP00000304408.3:p.Pro1118Leu
ENST00000317840.9:c.2528-457C>T ENSP00000315243.6:n.2528-457C>T
NM_000090.3:c.3353C>T , LRG_3t1:c.3353C>T NP_000081.1:p.Pro1118Leu
NM_000090.4:c.3353C>T MANE Select NP_000081.2:p.Pro1118Leu