Canonical Allele Identifier: CA2580070098

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2444105
• ClinVar RCV Id: RCV003152903

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567123C>G , CM000665.2:g.48567123C>G	GRCh38
NC_000003.11:g.48604556C>G , CM000665.1:g.48604556C>G	GRCh37
NC_000003.10:g.48579560C>G	NCBI36
NG_007065.1:g.33130G>C , LRG_286:g.33130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8109+5G>C MANE Select	ENSP00000506558.1:n.8109+5G>C
ENST00000328333.12:c.8109+5G>C	ENSP00000332371.8:n.8109+5G>C
ENST00000474432.1:n.241G>C
ENST00000487017.5:n.4748+5G>C
NM_000094.3:c.8109+5G>C , LRG_286t1:c.8109+5G>C	NP_000085.1:n.8109+5G>C
XM_011533336.1:c.8136+5G>C	XP_011531638.1:n.8136+5G>C
XM_011533337.1:c.8109+5G>C	XP_011531639.1:n.8109+5G>C
XM_011533338.1:c.8076+5G>C	XP_011531640.1:n.8076+5G>C
XR_940369.1:n.8172+5G>C
XR_940370.1:n.8172+5G>C
XR_940371.1:n.8172+5G>C
XM_017005688.1:c.8049+5G>C	XP_016861177.1:n.8049+5G>C
XR_001740003.1:n.8145+5G>C
XR_001740004.1:n.8145+5G>C
XR_001740005.1:n.8145+5G>C
NM_000094.4:c.8109+5G>C MANE Select	NP_000085.1:n.8109+5G>C