Canonical Allele Identifier: CA542787293

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564431G>A , CM000665.2:g.48564431G>A	GRCh38
NC_000003.11:g.48601864G>A , CM000665.1:g.48601864G>A	GRCh37
NC_000003.10:g.48576868G>A	NCBI36
NG_007065.1:g.35822C>T , LRG_286:g.35822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8819-9C>T MANE Select	ENSP00000506558.1:n.8819-9C>T
ENST00000328333.12:c.8819-9C>T	ENSP00000332371.8:n.8819-9C>T
ENST00000465238.5:n.238-9C>T
ENST00000466591.1:n.430-9C>T
ENST00000470076.1:n.293C>T
ENST00000487017.5:n.5458-9C>T
NM_000094.3:c.8819-9C>T , LRG_286t1:c.8819-9C>T	NP_000085.1:n.8819-9C>T
XM_011533336.1:c.8846-9C>T	XP_011531638.1:n.8846-9C>T
XM_011533337.1:c.8819-9C>T	XP_011531639.1:n.8819-9C>T
XM_011533338.1:c.8786-9C>T	XP_011531640.1:n.8786-9C>T
XR_940369.1:n.8955-9C>T
XR_940370.1:n.8919-9C>T
XR_940371.1:n.8916-9C>T
XM_017005688.1:c.8759-9C>T	XP_016861177.1:n.8759-9C>T
XR_001740003.1:n.8928-9C>T
XR_001740004.1:n.8892-9C>T
XR_001740005.1:n.8889-9C>T
NM_000094.4:c.8819-9C>T MANE Select	NP_000085.1:n.8819-9C>T