Canonical Allele Identifier: CA1363076118
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567791C= , CM000665.2:g.48567791C= GRCh38
NC_000003.11:g.48605224C= , CM000665.1:g.48605224C= GRCh37
NC_000003.10:g.48580228C= NCBI36
NG_007065.1:g.32462G= , LRG_286:g.32462G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7930-28G= MANE Select ENSP00000506558.1:n.7930-28G=
ENST00000328333.12:c.7930-28G= ENSP00000332371.8:n.7930-28G=
ENST00000459756.5:n.753-28G=
ENST00000487017.5:n.4569-28G=
NM_000094.3:c.7930-28G= , LRG_286t1:c.7930-28G= NP_000085.1:n.7930-28G=
XM_011533336.1:c.7957-28G= XP_011531638.1:n.7957-28G=
XM_011533337.1:c.7930-28G= XP_011531639.1:n.7930-28G=
XM_011533338.1:c.7897-28G= XP_011531640.1:n.7897-28G=
XR_940369.1:n.7993-28G=
XR_940370.1:n.7993-28G=
XR_940371.1:n.7993-28G=
XM_017005688.1:c.7870-28G= XP_016861177.1:n.7870-28G=
XR_001740003.1:n.7966-28G=
XR_001740004.1:n.7966-28G=
XR_001740005.1:n.7966-28G=
NM_000094.4:c.7930-28G= MANE Select NP_000085.1:n.7930-28G=