Canonical Allele Identifier: CA1315404808
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007534C= , CM000664.2:g.189007534C= GRCh38
NC_000002.11:g.189872260C= , CM000664.1:g.189872260C= GRCh37
NC_000002.10:g.189580505C= NCBI36
NG_007404.1:g.38162C= , LRG_3:g.38162C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3191C= ENSP00000415346.2:p.Thr1064=
ENST00000304636.9:c.3290C= MANE Select ENSP00000304408.4:p.Thr1097=
ENST00000304636.7:c.3290C= ENSP00000304408.3:p.Thr1097=
ENST00000317840.9:c.2528-520C= ENSP00000315243.6:n.2528-520C=
NM_000090.3:c.3290C= , LRG_3t1:c.3290C= NP_000081.1:p.Thr1097=
NM_000090.4:c.3290C= MANE Select NP_000081.2:p.Thr1097=