Canonical Allele Identifier: CA1363077278
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568551T= , CM000665.2:g.48568551T= GRCh38
NC_000003.11:g.48605984T= , CM000665.1:g.48605984T= GRCh37
NC_000003.10:g.48580988T= NCBI36
NG_007065.1:g.31702A= , LRG_286:g.31702A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7759-17A= MANE Select ENSP00000506558.1:n.7759-17A=
ENST00000328333.12:c.7759-17A= ENSP00000332371.8:n.7759-17A=
ENST00000459756.5:n.582-17A=
ENST00000467985.1:n.605-17A=
ENST00000487017.5:n.4398-17A=
NM_000094.3:c.7759-17A= , LRG_286t1:c.7759-17A= NP_000085.1:n.7759-17A=
XM_011533336.1:c.7786-17A= XP_011531638.1:n.7786-17A=
XM_011533337.1:c.7759-17A= XP_011531639.1:n.7759-17A=
XM_011533338.1:c.7726-17A= XP_011531640.1:n.7726-17A=
XM_011533339.1:c.7786-17A= XP_011531641.1:n.7786-17A=
XR_940369.1:n.7822-17A=
XR_940370.1:n.7822-17A=
XR_940371.1:n.7822-17A=
XR_940372.1:n.7796-17A=
XM_017005688.1:c.7699-17A= XP_016861177.1:n.7699-17A=
XM_017005689.1:c.7759-17A= XP_016861178.1:n.7759-17A=
XR_001740003.1:n.7795-17A=
XR_001740004.1:n.7795-17A=
XR_001740005.1:n.7795-17A=
XR_001740006.1:n.7769-17A=
NM_000094.4:c.7759-17A= MANE Select NP_000085.1:n.7759-17A=