Canonical Allele Identifier: CA1363077233
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568525C= , CM000665.2:g.48568525C= GRCh38
NC_000003.11:g.48605958C= , CM000665.1:g.48605958C= GRCh37
NC_000003.10:g.48580962C= NCBI36
NG_007065.1:g.31728G= , LRG_286:g.31728G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7768G= MANE Select ENSP00000506558.1:p.Gly2590=
ENST00000328333.12:c.7768G= ENSP00000332371.8:p.Gly2590=
ENST00000459756.5:n.591G=
ENST00000467985.1:n.614G=
ENST00000487017.5:n.4407G=
NM_000094.3:c.7768G= , LRG_286t1:c.7768G= NP_000085.1:p.Gly2590=
XM_011533336.1:c.7795G= XP_011531638.1:p.Gly2599=
XM_011533337.1:c.7768G= XP_011531639.1:p.Gly2590=
XM_011533338.1:c.7735G= XP_011531640.1:p.Gly2579=
XM_011533339.1:c.7795G= XP_011531641.1:p.Gly2599=
XR_940369.1:n.7831G=
XR_940370.1:n.7831G=
XR_940371.1:n.7831G=
XR_940372.1:n.7805G=
XM_017005688.1:c.7708G= XP_016861177.1:p.Gly2570=
XM_017005689.1:c.7768G= XP_016861178.1:p.Gly2590=
XR_001740003.1:n.7804G=
XR_001740004.1:n.7804G=
XR_001740005.1:n.7804G=
XR_001740006.1:n.7778G=
NM_000094.4:c.7768G= MANE Select NP_000085.1:p.Gly2590=