Canonical Allele Identifier: CA352635026
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1986471
ClinVar RCV Id: RCV002805521

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48565464C>G , CM000665.2:g.48565464C>G GRCh38
NC_000003.11:g.48602897C>G , CM000665.1:g.48602897C>G GRCh37
NC_000003.10:g.48577901C>G NCBI36
NG_007065.1:g.34789G>C , LRG_286:g.34789G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.8473G>C MANE Select ENSP00000506558.1:p.Gly2825Arg
ENST00000328333.12:c.8473G>C ENSP00000332371.8:p.Gly2825Arg
ENST00000487017.5:n.5112G>C
NM_000094.3:c.8473G>C , LRG_286t1:c.8473G>C NP_000085.1:p.Gly2825Arg
XM_011533336.1:c.8500G>C XP_011531638.1:p.Gly2834Arg
XM_011533337.1:c.8473G>C XP_011531639.1:p.Gly2825Arg
XM_011533338.1:c.8440G>C XP_011531640.1:p.Gly2814Arg
XR_940369.1:n.8536G>C
XR_940370.1:n.8536G>C
XR_940371.1:n.8536G>C
XM_017005688.1:c.8413G>C XP_016861177.1:p.Gly2805Arg
XR_001740003.1:n.8509G>C
XR_001740004.1:n.8509G>C
XR_001740005.1:n.8509G>C
NM_000094.4:c.8473G>C MANE Select NP_000085.1:p.Gly2825Arg