Canonical Allele Identifier: CA1363079512
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570259A= , CM000665.2:g.48570259A= GRCh38
NC_000003.11:g.48607692A= , CM000665.1:g.48607692A= GRCh37
NC_000003.10:g.48582696A= NCBI36
NG_007065.1:g.29994T= , LRG_286:g.29994T=

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7440+16T= MANE Select ENSP00000506558.1:n.7440+16T=
ENST00000328333.12:c.7440+16T= ENSP00000332371.8:n.7440+16T=
ENST00000422991.1:c.435+16T= ENSP00000391608.1:n.435+16T=
ENST00000459756.5:n.183T=
ENST00000467985.1:n.206T=
ENST00000487017.5:n.4079+16T=
NM_000094.3:c.7440+16T= , LRG_286t1:c.7440+16T= NP_000085.1:n.7440+16T=
XM_011533336.1:c.7467+16T= XP_011531638.1:n.7467+16T=
XM_011533337.1:c.7440+16T= XP_011531639.1:n.7440+16T=
XM_011533338.1:c.7408-81T= XP_011531640.1:n.7408-81T=
XM_011533339.1:c.7467+16T= XP_011531641.1:n.7467+16T=
XM_011533340.1:c.7408-7T= XP_011531642.1:n.7408-7T=
XM_011533341.1:c.7382-7T= XP_011531643.1:n.7382-7T=
XM_011533342.1:c.7382-81T= XP_011531644.1:n.7382-81T=
XR_940369.1:n.7503+16T=
XR_940370.1:n.7503+16T=
XR_940371.1:n.7503+16T=
XR_940372.1:n.7477+16T=
XM_017005688.1:c.7381-81T= XP_016861177.1:n.7381-81T=
XM_017005689.1:c.7440+16T= XP_016861178.1:n.7440+16T=
XM_017005690.1:c.7381-7T= XP_016861179.1:n.7381-7T=
XM_017005691.1:c.7355-7T= XP_016861180.1:n.7355-7T=
XM_017005692.1:c.7355-81T= XP_016861181.1:n.7355-81T=
XR_001740003.1:n.7476+16T=
XR_001740004.1:n.7476+16T=
XR_001740005.1:n.7476+16T=
XR_001740006.1:n.7450+16T=
NM_000094.4:c.7440+16T= MANE Select NP_000085.1:n.7440+16T=