Canonical Allele Identifier: CA1363080056
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48566204C= , CM000665.2:g.48566204C= GRCh38
NC_000003.11:g.48603637C= , CM000665.1:g.48603637C= GRCh37
NC_000003.10:g.48578641C= NCBI36
NG_007065.1:g.34049G= , LRG_286:g.34049G=

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.8407+63G= MANE Select ENSP00000506558.1:n.8407+63G=
ENST00000328333.12:c.8407+63G= ENSP00000332371.8:n.8407+63G=
ENST00000487017.5:n.5046+63G=
NM_000094.3:c.8407+63G= , LRG_286t1:c.8407+63G= NP_000085.1:n.8407+63G=
XM_011533336.1:c.8434+63G= XP_011531638.1:n.8434+63G=
XM_011533337.1:c.8407+63G= XP_011531639.1:n.8407+63G=
XM_011533338.1:c.8374+63G= XP_011531640.1:n.8374+63G=
XR_940369.1:n.8470+63G=
XR_940370.1:n.8470+63G=
XR_940371.1:n.8470+63G=
XM_017005688.1:c.8347+63G= XP_016861177.1:n.8347+63G=
XR_001740003.1:n.8443+63G=
XR_001740004.1:n.8443+63G=
XR_001740005.1:n.8443+63G=
NM_000094.4:c.8407+63G= MANE Select NP_000085.1:n.8407+63G=