Canonical Allele Identifier: CA1363077448
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568653C= , CM000665.2:g.48568653C= GRCh38
NC_000003.11:g.48606086C= , CM000665.1:g.48606086C= GRCh37
NC_000003.10:g.48581090C= NCBI36
NG_007065.1:g.31600G= , LRG_286:g.31600G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7759-119G= MANE Select ENSP00000506558.1:n.7759-119G=
ENST00000328333.12:c.7759-119G= ENSP00000332371.8:n.7759-119G=
ENST00000459756.5:n.582-119G=
ENST00000467985.1:n.605-119G=
ENST00000487017.5:n.4398-119G=
NM_000094.3:c.7759-119G= , LRG_286t1:c.7759-119G= NP_000085.1:n.7759-119G=
XM_011533336.1:c.7786-119G= XP_011531638.1:n.7786-119G=
XM_011533337.1:c.7759-119G= XP_011531639.1:n.7759-119G=
XM_011533338.1:c.7726-119G= XP_011531640.1:n.7726-119G=
XM_011533339.1:c.7786-119G= XP_011531641.1:n.7786-119G=
XR_940369.1:n.7822-119G=
XR_940370.1:n.7822-119G=
XR_940371.1:n.7822-119G=
XR_940372.1:n.7796-119G=
XM_017005688.1:c.7699-119G= XP_016861177.1:n.7699-119G=
XM_017005689.1:c.7759-119G= XP_016861178.1:n.7759-119G=
XR_001740003.1:n.7795-119G=
XR_001740004.1:n.7795-119G=
XR_001740005.1:n.7795-119G=
XR_001740006.1:n.7769-119G=
NM_000094.4:c.7759-119G= MANE Select NP_000085.1:n.7759-119G=