Canonical Allele Identifier: CA1363080683
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48566650C= , CM000665.2:g.48566650C= GRCh38
NC_000003.11:g.48604083C= , CM000665.1:g.48604083C= GRCh37
NC_000003.10:g.48579087C= NCBI36
NG_007065.1:g.33603G= , LRG_286:g.33603G=

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.8304+10G= MANE Select ENSP00000506558.1:n.8304+10G=
ENST00000328333.12:c.8304+10G= ENSP00000332371.8:n.8304+10G=
ENST00000474432.1:n.704+10G=
ENST00000487017.5:n.4943+10G=
NM_000094.3:c.8304+10G= , LRG_286t1:c.8304+10G= NP_000085.1:n.8304+10G=
XM_011533336.1:c.8331+10G= XP_011531638.1:n.8331+10G=
XM_011533337.1:c.8304+10G= XP_011531639.1:n.8304+10G=
XM_011533338.1:c.8271+10G= XP_011531640.1:n.8271+10G=
XR_940369.1:n.8367+10G=
XR_940370.1:n.8367+10G=
XR_940371.1:n.8367+10G=
XM_017005688.1:c.8244+10G= XP_016861177.1:n.8244+10G=
XR_001740003.1:n.8340+10G=
XR_001740004.1:n.8340+10G=
XR_001740005.1:n.8340+10G=
NM_000094.4:c.8304+10G= MANE Select NP_000085.1:n.8304+10G=