Canonical Allele Identifier: CA2378291
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs760445665
gnomAD v2: 3-48605586-A-C
gnomAD v3: 3-48568153-A-C
gnomAD v4: 3-48568153-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48568153A>C , CM000665.2:g.48568153A>C GRCh38
NC_000003.11:g.48605586A>C , CM000665.1:g.48605586A>C GRCh37
NC_000003.10:g.48580590A>C NCBI36
NG_007065.1:g.32100T>G , LRG_286:g.32100T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681320.1:c.7812T>G MANE Select ENSP00000506558.1:p.Asp2604Glu
ENST00000328333.12:c.7812T>G ENSP00000332371.8:p.Asp2604Glu
ENST00000459756.5:n.635T>G
ENST00000487017.5:n.4451T>G
NM_000094.3:c.7812T>G , LRG_286t1:c.7812T>G NP_000085.1:p.Asp2604Glu
XM_011533336.1:c.7839T>G XP_011531638.1:p.Asp2613Glu
XM_011533337.1:c.7812T>G XP_011531639.1:p.Asp2604Glu
XM_011533338.1:c.7779T>G XP_011531640.1:p.Asp2593Glu
XM_011533339.1:c.*44T>G XP_011531641.1:n.*44T>G
XR_940369.1:n.7875T>G
XR_940370.1:n.7875T>G
XR_940371.1:n.7875T>G
XR_940372.1:n.7849T>G
XM_017005688.1:c.7752T>G XP_016861177.1:p.Asp2584Glu
XM_017005689.1:c.*44T>G XP_016861178.1:n.*44T>G
XR_001740003.1:n.7848T>G
XR_001740004.1:n.7848T>G
XR_001740005.1:n.7848T>G
XR_001740006.1:n.7822T>G
NM_000094.4:c.7812T>G MANE Select NP_000085.1:p.Asp2604Glu