Canonical Allele Identifier: CA2378510
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 75127
ClinVar RCV Id: RCV001496867
dbSNP Id: rs267599856
gnomAD v2: 3-48607723-C-T
gnomAD v4: 3-48570290-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48570290C>T , CM000665.2:g.48570290C>T GRCh38
NC_000003.11:g.48607723C>T , CM000665.1:g.48607723C>T GRCh37
NC_000003.10:g.48582727C>T NCBI36
NG_007065.1:g.29963G>A , LRG_286:g.29963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7425G>A MANE Select ENSP00000506558.1:p.Gly2475=
ENST00000328333.12:c.7425G>A ENSP00000332371.8:p.Gly2475=
ENST00000422991.1:c.420G>A ENSP00000391608.1:p.Gly140=
ENST00000459756.5:n.152G>A
ENST00000467985.1:n.175G>A
ENST00000487017.5:n.4064G>A
NM_000094.3:c.7425G>A , LRG_286t1:c.7425G>A NP_000085.1:p.Gly2475=
XM_011533336.1:c.7452G>A XP_011531638.1:p.Gly2484=
XM_011533337.1:c.7425G>A XP_011531639.1:p.Gly2475=
XM_011533338.1:c.7408-112G>A XP_011531640.1:n.7408-112G>A
XM_011533339.1:c.7452G>A XP_011531641.1:p.Gly2484=
XM_011533340.1:c.7408-38G>A XP_011531642.1:n.7408-38G>A
XM_011533341.1:c.7382-38G>A XP_011531643.1:n.7382-38G>A
XM_011533342.1:c.7382-112G>A XP_011531644.1:n.7382-112G>A
XR_940369.1:n.7488G>A
XR_940370.1:n.7488G>A
XR_940371.1:n.7488G>A
XR_940372.1:n.7462G>A
XM_017005688.1:c.7381-112G>A XP_016861177.1:n.7381-112G>A
XM_017005689.1:c.7425G>A XP_016861178.1:p.Gly2475=
XM_017005690.1:c.7381-38G>A XP_016861179.1:n.7381-38G>A
XM_017005691.1:c.7355-38G>A XP_016861180.1:n.7355-38G>A
XM_017005692.1:c.7355-112G>A XP_016861181.1:n.7355-112G>A
XR_001740003.1:n.7461G>A
XR_001740004.1:n.7461G>A
XR_001740005.1:n.7461G>A
XR_001740006.1:n.7435G>A
NM_000094.4:c.7425G>A MANE Select NP_000085.1:p.Gly2475=