Canonical Allele Identifier: CA1363079616
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570317C= , CM000665.2:g.48570317C= GRCh38
NC_000003.11:g.48607750C= , CM000665.1:g.48607750C= GRCh37
NC_000003.10:g.48582754C= NCBI36
NG_007065.1:g.29936G= , LRG_286:g.29936G=

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7398G= MANE Select ENSP00000506558.1:p.Gly2466=
ENST00000328333.12:c.7398G= ENSP00000332371.8:p.Gly2466=
ENST00000422991.1:c.393G= ENSP00000391608.1:p.Gly131=
ENST00000459756.5:n.125G=
ENST00000467985.1:n.148G=
ENST00000487017.5:n.4037G=
NM_000094.3:c.7398G= , LRG_286t1:c.7398G= NP_000085.1:p.Gly2466=
XM_011533336.1:c.7425G= XP_011531638.1:p.Gly2475=
XM_011533337.1:c.7398G= XP_011531639.1:p.Gly2466=
XM_011533338.1:c.7408-139G= XP_011531640.1:p.=
XM_011533339.1:c.7425G= XP_011531641.1:p.Gly2475=
XM_011533340.1:c.7408-65G= XP_011531642.1:p.=
XM_011533341.1:c.7382-65G= XP_011531643.1:p.=
XM_011533342.1:c.7382-139G= XP_011531644.1:p.=
XR_940369.1:n.7461G=
XR_940370.1:n.7461G=
XR_940371.1:n.7461G=
XR_940372.1:n.7435G=
XM_017005688.1:c.7381-139G= XP_016861177.1:p.=
XM_017005689.1:c.7398G= XP_016861178.1:p.Gly2466=
XM_017005690.1:c.7381-65G= XP_016861179.1:p.=
XM_017005691.1:c.7355-65G= XP_016861180.1:p.=
XM_017005692.1:c.7355-139G= XP_016861181.1:p.=
XR_001740003.1:n.7434G=
XR_001740004.1:n.7434G=
XR_001740005.1:n.7434G=
XR_001740006.1:n.7408G=
NM_000094.4:c.7398G= MANE Select NP_000085.1:p.Gly2466=