Canonical Allele Identifier: CA1363075491

Gene: COL7A1

Linked Data

• dbSNP Id: rs2043653443
• gnomAD v4: 3-48567373-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567373T>C , CM000665.2:g.48567373T>C	GRCh38
NC_000003.11:g.48604806T>C , CM000665.1:g.48604806T>C	GRCh37
NC_000003.10:g.48579810T>C	NCBI36
NG_007065.1:g.32880A>G , LRG_286:g.32880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8047-183A>G MANE Select	ENSP00000506558.1:n.8047-183A>G
ENST00000328333.12:c.8047-183A>G	ENSP00000332371.8:n.8047-183A>G
ENST00000487017.5:n.4686-183A>G
NM_000094.3:c.8047-183A>G , LRG_286t1:c.8047-183A>G	NP_000085.1:n.8047-183A>G
XM_011533336.1:c.8074-183A>G	XP_011531638.1:n.8074-183A>G
XM_011533337.1:c.8047-183A>G	XP_011531639.1:n.8047-183A>G
XM_011533338.1:c.8014-183A>G	XP_011531640.1:n.8014-183A>G
XR_940369.1:n.8110-183A>G
XR_940370.1:n.8110-183A>G
XR_940371.1:n.8110-183A>G
XM_017005688.1:c.7987-183A>G	XP_016861177.1:n.7987-183A>G
XR_001740003.1:n.8083-183A>G
XR_001740004.1:n.8083-183A>G
XR_001740005.1:n.8083-183A>G
NM_000094.4:c.8047-183A>G MANE Select	NP_000085.1:n.8047-183A>G