Canonical Allele Identifier: CA2379452
Gene: COL7A1 HGNC NCBI

Linked Data

dbSNP Id: rs747075622
gnomAD v2: 3-48615718-G-C
gnomAD v4: 3-48578285-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48578285G>C , CM000665.2:g.48578285G>C GRCh38
NC_000003.11:g.48615718G>C , CM000665.1:g.48615718G>C GRCh37
NC_000003.10:g.48590722G>C NCBI36
NG_007065.1:g.21968C>G , LRG_286:g.21968C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.5532+36C>G MANE Select ENSP00000506558.1:n.5532+36C>G
ENST00000328333.12:c.5532+36C>G ENSP00000332371.8:n.5532+36C>G
ENST00000487017.5:n.1449+36C>G
NM_000094.3:c.5532+36C>G , LRG_286t1:c.5532+36C>G NP_000085.1:n.5532+36C>G
XM_011533336.1:c.5559+36C>G XP_011531638.1:n.5559+36C>G
XM_011533337.1:c.5532+36C>G XP_011531639.1:n.5532+36C>G
XM_011533338.1:c.5559+36C>G XP_011531640.1:n.5559+36C>G
XM_011533339.1:c.5559+36C>G XP_011531641.1:n.5559+36C>G
XM_011533340.1:c.5559+36C>G XP_011531642.1:n.5559+36C>G
XM_011533341.1:c.5559+36C>G XP_011531643.1:n.5559+36C>G
XM_011533342.1:c.5559+36C>G XP_011531644.1:n.5559+36C>G
XR_940369.1:n.5595+36C>G
XR_940370.1:n.5595+36C>G
XR_940371.1:n.5595+36C>G
XR_940372.1:n.5595+36C>G
XR_940373.1:n.5595+36C>G
XR_940374.1:n.5595+36C>G
XR_940375.1:n.5595+36C>G
XM_017005688.1:c.5532+36C>G XP_016861177.1:n.5532+36C>G
XM_017005689.1:c.5532+36C>G XP_016861178.1:n.5532+36C>G
XM_017005690.1:c.5532+36C>G XP_016861179.1:n.5532+36C>G
XM_017005691.1:c.5532+36C>G XP_016861180.1:n.5532+36C>G
XM_017005692.1:c.5532+36C>G XP_016861181.1:n.5532+36C>G
XR_001740003.1:n.5568+36C>G
XR_001740004.1:n.5568+36C>G
XR_001740005.1:n.5568+36C>G
XR_001740006.1:n.5568+36C>G
XR_001740007.1:n.5568+36C>G
XR_001740008.1:n.5568+36C>G
XR_001740009.1:n.5568+36C>G
NM_000094.4:c.5532+36C>G MANE Select NP_000085.1:n.5532+36C>G