Canonical Allele Identifier: CA1363075713

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567585T= , CM000665.2:g.48567585T=	GRCh38
NC_000003.11:g.48605018T= , CM000665.1:g.48605018T=	GRCh37
NC_000003.10:g.48580022T=	NCBI36
NG_007065.1:g.32668A= , LRG_286:g.32668A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8035A= MANE Select	ENSP00000506558.1:p.Ile2679=
ENST00000328333.12:c.8035A=	ENSP00000332371.8:p.Ile2679=
ENST00000487017.5:n.4674A=
NM_000094.3:c.8035A= , LRG_286t1:c.8035A=	NP_000085.1:p.Ile2679=
XM_011533336.1:c.8062A=	XP_011531638.1:p.Ile2688=
XM_011533337.1:c.8035A=	XP_011531639.1:p.Ile2679=
XM_011533338.1:c.8002A=	XP_011531640.1:p.Ile2668=
XR_940369.1:n.8098A=
XR_940370.1:n.8098A=
XR_940371.1:n.8098A=
XM_017005688.1:c.7975A=	XP_016861177.1:p.Ile2659=
XR_001740003.1:n.8071A=
XR_001740004.1:n.8071A=
XR_001740005.1:n.8071A=
NM_000094.4:c.8035A= MANE Select	NP_000085.1:p.Ile2679=