Canonical Allele Identifier: CA1315404040
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006259G= , CM000664.2:g.189006259G= GRCh38
NC_000002.11:g.189870985G= , CM000664.1:g.189870985G= GRCh37
NC_000002.10:g.189579230G= NCBI36
NG_007404.1:g.36887G= , LRG_3:g.36887G=

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2994G= ENSP00000415346.2:p.Lys998=
ENST00000304636.9:c.3093G= MANE Select ENSP00000304408.4:p.Lys1031=
ENST00000304636.7:c.3093G= ENSP00000304408.3:p.Lys1031=
ENST00000317840.9:c.2528-1795G= ENSP00000315243.6:n.2528-1795G=
NM_000090.3:c.3093G= , LRG_3t1:c.3093G= NP_000081.1:p.Lys1031=
NM_000090.4:c.3093G= MANE Select NP_000081.2:p.Lys1031=