Canonical Allele Identifier: CA2573137109

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1550513
• ClinVar RCV Id: RCV002189749
• dbSNP Id: rs2107635306
• gnomAD v4: 3-48567645-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567645A>G , CM000665.2:g.48567645A>G	GRCh38
NC_000003.11:g.48605078A>G , CM000665.1:g.48605078A>G	GRCh37
NC_000003.10:g.48580082A>G	NCBI36
NG_007065.1:g.32608T>C , LRG_286:g.32608T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7984-9T>C MANE Select	ENSP00000506558.1:n.7984-9T>C
ENST00000328333.12:c.7984-9T>C	ENSP00000332371.8:n.7984-9T>C
ENST00000487017.5:n.4623-9T>C
NM_000094.3:c.7984-9T>C , LRG_286t1:c.7984-9T>C	NP_000085.1:n.7984-9T>C
XM_011533336.1:c.8011-9T>C	XP_011531638.1:n.8011-9T>C
XM_011533337.1:c.7984-9T>C	XP_011531639.1:n.7984-9T>C
XM_011533338.1:c.7951-9T>C	XP_011531640.1:n.7951-9T>C
XR_940369.1:n.8047-9T>C
XR_940370.1:n.8047-9T>C
XR_940371.1:n.8047-9T>C
XM_017005688.1:c.7924-9T>C	XP_016861177.1:n.7924-9T>C
XR_001740003.1:n.8020-9T>C
XR_001740004.1:n.8020-9T>C
XR_001740005.1:n.8020-9T>C
NM_000094.4:c.7984-9T>C MANE Select	NP_000085.1:n.7984-9T>C