Canonical Allele Identifier: CA1363076096
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567785G= , CM000665.2:g.48567785G= GRCh38
NC_000003.11:g.48605218G= , CM000665.1:g.48605218G= GRCh37
NC_000003.10:g.48580222G= NCBI36
NG_007065.1:g.32468C= , LRG_286:g.32468C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7930-22C= MANE Select ENSP00000506558.1:n.7930-22C=
ENST00000328333.12:c.7930-22C= ENSP00000332371.8:n.7930-22C=
ENST00000459756.5:n.753-22C=
ENST00000487017.5:n.4569-22C=
NM_000094.3:c.7930-22C= , LRG_286t1:c.7930-22C= NP_000085.1:n.7930-22C=
XM_011533336.1:c.7957-22C= XP_011531638.1:n.7957-22C=
XM_011533337.1:c.7930-22C= XP_011531639.1:n.7930-22C=
XM_011533338.1:c.7897-22C= XP_011531640.1:n.7897-22C=
XR_940369.1:n.7993-22C=
XR_940370.1:n.7993-22C=
XR_940371.1:n.7993-22C=
XM_017005688.1:c.7870-22C= XP_016861177.1:n.7870-22C=
XR_001740003.1:n.7966-22C=
XR_001740004.1:n.7966-22C=
XR_001740005.1:n.7966-22C=
NM_000094.4:c.7930-22C= MANE Select NP_000085.1:n.7930-22C=