Canonical Allele Identifier: CA257940
Gene: COL7A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17430
dbSNP Id: rs121912832

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48575512C>T , CM000665.2:g.48575512C>T GRCh38
NC_000003.11:g.48612945C>T , CM000665.1:g.48612945C>T GRCh37
NC_000003.10:g.48587949C>T NCBI36
NG_007065.1:g.24741G>A , LRG_286:g.24741G>A

Transcript Alleles

HGVS Amino-acid change
NM_000094.3:c.6007G>A , LRG_286t1:c.6007G>A NP_000085.1:p.Gly2003Arg
XM_011533336.1:c.6034G>A XP_011531638.1:p.Gly2012Arg
XM_011533337.1:c.6007G>A XP_011531639.1:p.Gly2003Arg
XM_011533338.1:c.6034G>A XP_011531640.1:p.Gly2012Arg
XM_011533339.1:c.6034G>A XP_011531641.1:p.Gly2012Arg
XM_011533340.1:c.6034G>A XP_011531642.1:p.Gly2012Arg
XM_011533341.1:c.6034G>A XP_011531643.1:p.Gly2012Arg
XM_011533342.1:c.6034G>A XP_011531644.1:p.Gly2012Arg
XR_940369.1:n.6070G>A
XR_940370.1:n.6070G>A
XR_940371.1:n.6070G>A
XR_940372.1:n.6070G>A
XR_940373.1:n.6070G>A
XR_940374.1:n.6070G>A
XR_940375.1:n.6070G>A
XM_017005688.1:c.6007G>A XP_016861177.1:p.Gly2003Arg
XM_017005689.1:c.6007G>A XP_016861178.1:p.Gly2003Arg
XM_017005690.1:c.6007G>A XP_016861179.1:p.Gly2003Arg
XM_017005691.1:c.6007G>A XP_016861180.1:p.Gly2003Arg
XM_017005692.1:c.6007G>A XP_016861181.1:p.Gly2003Arg
XR_001740003.1:n.6043G>A
XR_001740004.1:n.6043G>A
XR_001740005.1:n.6043G>A
XR_001740006.1:n.6043G>A
XR_001740007.1:n.6043G>A
XR_001740008.1:n.6043G>A
XR_001740009.1:n.6043G>A
ENST00000328333.12:c.6007G>A ENSP00000332371.8:p.Gly2003Arg
ENST00000487017.5:n.1924G>A