Canonical Allele Identifier: CA1363075483
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567363C= , CM000665.2:g.48567363C= GRCh38
NC_000003.11:g.48604796C= , CM000665.1:g.48604796C= GRCh37
NC_000003.10:g.48579800C= NCBI36
NG_007065.1:g.32890G= , LRG_286:g.32890G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.8047-173G= MANE Select ENSP00000506558.1:n.8047-173G=
ENST00000328333.12:c.8047-173G= ENSP00000332371.8:n.8047-173G=
ENST00000474432.1:n.1G=
ENST00000487017.5:n.4686-173G=
NM_000094.3:c.8047-173G= , LRG_286t1:c.8047-173G= NP_000085.1:n.8047-173G=
XM_011533336.1:c.8074-173G= XP_011531638.1:n.8074-173G=
XM_011533337.1:c.8047-173G= XP_011531639.1:n.8047-173G=
XM_011533338.1:c.8014-173G= XP_011531640.1:n.8014-173G=
XR_940369.1:n.8110-173G=
XR_940370.1:n.8110-173G=
XR_940371.1:n.8110-173G=
XM_017005688.1:c.7987-173G= XP_016861177.1:n.7987-173G=
XR_001740003.1:n.8083-173G=
XR_001740004.1:n.8083-173G=
XR_001740005.1:n.8083-173G=
NM_000094.4:c.8047-173G= MANE Select NP_000085.1:n.8047-173G=