Canonical Allele Identifier: CA1363076347
Gene: COL7A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567936C= , CM000665.2:g.48567936C= GRCh38
NC_000003.11:g.48605369C= , CM000665.1:g.48605369C= GRCh37
NC_000003.10:g.48580373C= NCBI36
NG_007065.1:g.32317G= , LRG_286:g.32317G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7876-45G= MANE Select ENSP00000506558.1:n.7876-45G=
ENST00000328333.12:c.7876-45G= ENSP00000332371.8:n.7876-45G=
ENST00000459756.5:n.699-45G=
ENST00000487017.5:n.4515-45G=
NM_000094.3:c.7876-45G= , LRG_286t1:c.7876-45G= NP_000085.1:n.7876-45G=
XM_011533336.1:c.7903-45G= XP_011531638.1:n.7903-45G=
XM_011533337.1:c.7876-45G= XP_011531639.1:n.7876-45G=
XM_011533338.1:c.7843-45G= XP_011531640.1:n.7843-45G=
XR_940369.1:n.7939-45G=
XR_940370.1:n.7939-45G=
XR_940371.1:n.7939-45G=
XM_017005688.1:c.7816-45G= XP_016861177.1:n.7816-45G=
XR_001740003.1:n.7912-45G=
XR_001740004.1:n.7912-45G=
XR_001740005.1:n.7912-45G=
NM_000094.4:c.7876-45G= MANE Select NP_000085.1:n.7876-45G=