Canonical Allele Identifier: CA2739278433

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2836712
• ClinVar RCV Id: RCV003690227

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568077G>T , CM000665.2:g.48568077G>T	GRCh38
NC_000003.11:g.48605510G>T , CM000665.1:g.48605510G>T	GRCh37
NC_000003.10:g.48580514G>T	NCBI36
NG_007065.1:g.32176C>A , LRG_286:g.32176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7875+13C>A MANE Select	ENSP00000506558.1:n.7875+13C>A
ENST00000328333.12:c.7875+13C>A	ENSP00000332371.8:n.7875+13C>A
ENST00000459756.5:n.698+13C>A
ENST00000487017.5:n.4514+13C>A
NM_000094.3:c.7875+13C>A , LRG_286t1:c.7875+13C>A	NP_000085.1:n.7875+13C>A
XM_011533336.1:c.7902+13C>A	XP_011531638.1:n.7902+13C>A
XM_011533337.1:c.7875+13C>A	XP_011531639.1:n.7875+13C>A
XM_011533338.1:c.7842+13C>A	XP_011531640.1:n.7842+13C>A
XR_940369.1:n.7938+13C>A
XR_940370.1:n.7938+13C>A
XR_940371.1:n.7938+13C>A
XM_017005688.1:c.7815+13C>A	XP_016861177.1:n.7815+13C>A
XR_001740003.1:n.7911+13C>A
XR_001740004.1:n.7911+13C>A
XR_001740005.1:n.7911+13C>A
NM_000094.4:c.7875+13C>A MANE Select	NP_000085.1:n.7875+13C>A