Canonical Allele Identifier: CA1363075563

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567430G= , CM000665.2:g.48567430G=	GRCh38
NC_000003.11:g.48604863G= , CM000665.1:g.48604863G=	GRCh37
NC_000003.10:g.48579867G=	NCBI36
NG_007065.1:g.32823C= , LRG_286:g.32823C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8046+144C= MANE Select	ENSP00000506558.1:n.8046+144C=
ENST00000328333.12:c.8046+144C=	ENSP00000332371.8:n.8046+144C=
ENST00000487017.5:n.4685+144C=
NM_000094.3:c.8046+144C= , LRG_286t1:c.8046+144C=	NP_000085.1:n.8046+144C=
XM_011533336.1:c.8073+144C=	XP_011531638.1:n.8073+144C=
XM_011533337.1:c.8046+144C=	XP_011531639.1:n.8046+144C=
XM_011533338.1:c.8013+144C=	XP_011531640.1:n.8013+144C=
XR_940369.1:n.8109+144C=
XR_940370.1:n.8109+144C=
XR_940371.1:n.8109+144C=
XM_017005688.1:c.7986+144C=	XP_016861177.1:n.7986+144C=
XR_001740003.1:n.8082+144C=
XR_001740004.1:n.8082+144C=
XR_001740005.1:n.8082+144C=
NM_000094.4:c.8046+144C= MANE Select	NP_000085.1:n.8046+144C=