Canonical Allele Identifier: CA2573137117

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1611568
• ClinVar RCV Id: RCV002166035
• dbSNP Id: rs2107639924

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568862G>A , CM000665.2:g.48568862G>A	GRCh38
NC_000003.11:g.48606295G>A , CM000665.1:g.48606295G>A	GRCh37
NC_000003.10:g.48581299G>A	NCBI36
NG_007065.1:g.31391C>T , LRG_286:g.31391C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7687-7C>T MANE Select	ENSP00000506558.1:n.7687-7C>T
ENST00000328333.12:c.7687-7C>T	ENSP00000332371.8:n.7687-7C>T
ENST00000459756.5:n.510-7C>T
ENST00000467985.1:n.533-7C>T
ENST00000487017.5:n.4326-7C>T
NM_000094.3:c.7687-7C>T , LRG_286t1:c.7687-7C>T	NP_000085.1:n.7687-7C>T
XM_011533336.1:c.7714-7C>T	XP_011531638.1:n.7714-7C>T
XM_011533337.1:c.7687-7C>T	XP_011531639.1:n.7687-7C>T
XM_011533338.1:c.7654-7C>T	XP_011531640.1:n.7654-7C>T
XM_011533339.1:c.7714-7C>T	XP_011531641.1:n.7714-7C>T
XR_940369.1:n.7750-7C>T
XR_940370.1:n.7750-7C>T
XR_940371.1:n.7750-7C>T
XR_940372.1:n.7724-7C>T
XM_017005688.1:c.7627-7C>T	XP_016861177.1:n.7627-7C>T
XM_017005689.1:c.7687-7C>T	XP_016861178.1:n.7687-7C>T
XR_001740003.1:n.7723-7C>T
XR_001740004.1:n.7723-7C>T
XR_001740005.1:n.7723-7C>T
XR_001740006.1:n.7697-7C>T
NM_000094.4:c.7687-7C>T MANE Select	NP_000085.1:n.7687-7C>T