Canonical Allele Identifier: CA1315396244
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989530C= , CM000664.2:g.188989530C= GRCh38
NC_000002.11:g.189854256C= , CM000664.1:g.189854256C= GRCh37
NC_000002.10:g.189562501C= NCBI36
NG_007404.1:g.20158C= , LRG_3:g.20158C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+81C= ENSP00000415346.2:n.690+81C=
ENST00000304636.9:c.690+81C= MANE Select ENSP00000304408.4:n.690+81C=
ENST00000304636.7:c.690+81C= ENSP00000304408.3:n.690+81C=
ENST00000317840.9:c.690+81C= ENSP00000315243.6:n.690+81C=
NM_000090.3:c.690+81C= , LRG_3t1:c.690+81C= NP_000081.1:n.690+81C=
NM_000090.4:c.690+81C= MANE Select NP_000081.2:n.690+81C=