Canonical Allele Identifier: CA352665478
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203369
dbSNP Id: rs1340588200
gnomAD v2: 3-48613168-C-T
gnomAD v3: 3-48575735-C-T
gnomAD v4: 3-48575735-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48575735C>T , CM000665.2:g.48575735C>T GRCh38
NC_000003.11:g.48613168C>T , CM000665.1:g.48613168C>T GRCh37
NC_000003.10:g.48588172C>T NCBI36
NG_007065.1:g.24518G>A , LRG_286:g.24518G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.5870G>A MANE Select ENSP00000506558.1:p.Arg1957Gln
ENST00000328333.12:c.5870G>A ENSP00000332371.8:p.Arg1957Gln
ENST00000487017.5:n.1787G>A
NM_000094.3:c.5870G>A , LRG_286t1:c.5870G>A NP_000085.1:p.Arg1957Gln
XM_011533336.1:c.5897G>A XP_011531638.1:p.Arg1966Gln
XM_011533337.1:c.5870G>A XP_011531639.1:p.Arg1957Gln
XM_011533338.1:c.5897G>A XP_011531640.1:p.Arg1966Gln
XM_011533339.1:c.5897G>A XP_011531641.1:p.Arg1966Gln
XM_011533340.1:c.5897G>A XP_011531642.1:p.Arg1966Gln
XM_011533341.1:c.5897G>A XP_011531643.1:p.Arg1966Gln
XM_011533342.1:c.5897G>A XP_011531644.1:p.Arg1966Gln
XR_940369.1:n.5933G>A
XR_940370.1:n.5933G>A
XR_940371.1:n.5933G>A
XR_940372.1:n.5933G>A
XR_940373.1:n.5933G>A
XR_940374.1:n.5933G>A
XR_940375.1:n.5933G>A
XM_017005688.1:c.5870G>A XP_016861177.1:p.Arg1957Gln
XM_017005689.1:c.5870G>A XP_016861178.1:p.Arg1957Gln
XM_017005690.1:c.5870G>A XP_016861179.1:p.Arg1957Gln
XM_017005691.1:c.5870G>A XP_016861180.1:p.Arg1957Gln
XM_017005692.1:c.5870G>A XP_016861181.1:p.Arg1957Gln
XR_001740003.1:n.5906G>A
XR_001740004.1:n.5906G>A
XR_001740005.1:n.5906G>A
XR_001740006.1:n.5906G>A
XR_001740007.1:n.5906G>A
XR_001740008.1:n.5906G>A
XR_001740009.1:n.5906G>A
NM_000094.4:c.5870G>A MANE Select NP_000085.1:p.Arg1957Gln