Canonical Allele Identifier: CA16617980
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419484
ClinVar RCV Id: RCV000484222
dbSNP Id: rs1064793904
gnomAD v4: 3-48568854-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568854C>T , CM000665.2:g.48568854C>T GRCh38
NC_000003.11:g.48606287C>T , CM000665.1:g.48606287C>T GRCh37
NC_000003.10:g.48581291C>T NCBI36
NG_007065.1:g.31399G>A , LRG_286:g.31399G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7688G>A MANE Select ENSP00000506558.1:p.Gly2563Asp
ENST00000328333.12:c.7688G>A ENSP00000332371.8:p.Gly2563Asp
ENST00000459756.5:n.511G>A
ENST00000467985.1:n.534G>A
ENST00000487017.5:n.4327G>A
NM_000094.3:c.7688G>A , LRG_286t1:c.7688G>A NP_000085.1:p.Gly2563Asp
XM_011533336.1:c.7715G>A XP_011531638.1:p.Gly2572Asp
XM_011533337.1:c.7688G>A XP_011531639.1:p.Gly2563Asp
XM_011533338.1:c.7655G>A XP_011531640.1:p.Gly2552Asp
XM_011533339.1:c.7715G>A XP_011531641.1:p.Gly2572Asp
XR_940369.1:n.7751G>A
XR_940370.1:n.7751G>A
XR_940371.1:n.7751G>A
XR_940372.1:n.7725G>A
XM_017005688.1:c.7628G>A XP_016861177.1:p.Gly2543Asp
XM_017005689.1:c.7688G>A XP_016861178.1:p.Gly2563Asp
XR_001740003.1:n.7724G>A
XR_001740004.1:n.7724G>A
XR_001740005.1:n.7724G>A
XR_001740006.1:n.7698G>A
NM_000094.4:c.7688G>A MANE Select NP_000085.1:p.Gly2563Asp