Canonical Allele Identifier: CA2740094426

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2999549
• ClinVar RCV Id: RCV003854660

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568547C>T , CM000665.2:g.48568547C>T	GRCh38
NC_000003.11:g.48605980C>T , CM000665.1:g.48605980C>T	GRCh37
NC_000003.10:g.48580984C>T	NCBI36
NG_007065.1:g.31706G>A , LRG_286:g.31706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-13G>A MANE Select	ENSP00000506558.1:n.7759-13G>A
ENST00000328333.12:c.7759-13G>A	ENSP00000332371.8:n.7759-13G>A
ENST00000459756.5:n.582-13G>A
ENST00000467985.1:n.605-13G>A
ENST00000487017.5:n.4398-13G>A
NM_000094.3:c.7759-13G>A , LRG_286t1:c.7759-13G>A	NP_000085.1:n.7759-13G>A
XM_011533336.1:c.7786-13G>A	XP_011531638.1:n.7786-13G>A
XM_011533337.1:c.7759-13G>A	XP_011531639.1:n.7759-13G>A
XM_011533338.1:c.7726-13G>A	XP_011531640.1:n.7726-13G>A
XM_011533339.1:c.7786-13G>A	XP_011531641.1:n.7786-13G>A
XR_940369.1:n.7822-13G>A
XR_940370.1:n.7822-13G>A
XR_940371.1:n.7822-13G>A
XR_940372.1:n.7796-13G>A
XM_017005688.1:c.7699-13G>A	XP_016861177.1:n.7699-13G>A
XM_017005689.1:c.7759-13G>A	XP_016861178.1:n.7759-13G>A
XR_001740003.1:n.7795-13G>A
XR_001740004.1:n.7795-13G>A
XR_001740005.1:n.7795-13G>A
XR_001740006.1:n.7769-13G>A
NM_000094.4:c.7759-13G>A MANE Select	NP_000085.1:n.7759-13G>A