Canonical Allele Identifier: CA2665619987

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568667-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568667T>C , CM000665.2:g.48568667T>C	GRCh38
NC_000003.11:g.48606100T>C , CM000665.1:g.48606100T>C	GRCh37
NC_000003.10:g.48581104T>C	NCBI36
NG_007065.1:g.31586A>G , LRG_286:g.31586A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7758+117A>G MANE Select	ENSP00000506558.1:n.7758+117A>G
ENST00000328333.12:c.7758+117A>G	ENSP00000332371.8:n.7758+117A>G
ENST00000459756.5:n.581+117A>G
ENST00000467985.1:n.604+117A>G
ENST00000487017.5:n.4397+117A>G
NM_000094.3:c.7758+117A>G , LRG_286t1:c.7758+117A>G	NP_000085.1:n.7758+117A>G
XM_011533336.1:c.7785+117A>G	XP_011531638.1:n.7785+117A>G
XM_011533337.1:c.7758+117A>G	XP_011531639.1:n.7758+117A>G
XM_011533338.1:c.7725+117A>G	XP_011531640.1:n.7725+117A>G
XM_011533339.1:c.7785+117A>G	XP_011531641.1:n.7785+117A>G
XR_940369.1:n.7821+117A>G
XR_940370.1:n.7821+117A>G
XR_940371.1:n.7821+117A>G
XR_940372.1:n.7795+117A>G
XM_017005688.1:c.7698+117A>G	XP_016861177.1:n.7698+117A>G
XM_017005689.1:c.7758+117A>G	XP_016861178.1:n.7758+117A>G
XR_001740003.1:n.7794+117A>G
XR_001740004.1:n.7794+117A>G
XR_001740005.1:n.7794+117A>G
XR_001740006.1:n.7768+117A>G
NM_000094.4:c.7758+117A>G MANE Select	NP_000085.1:n.7758+117A>G