Canonical Allele Identifier: CA1363079120

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2741167
• ClinVar RCV Id: RCV003576011
• dbSNP Id: rs2044824444

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48582359dup , CM000665.2:g.48582359dup	GRCh38
NC_000003.11:g.48619792dup , CM000665.1:g.48619792dup	GRCh37
NC_000003.10:g.48594796dup	NCBI36
NG_007065.1:g.17898dup , LRG_286:g.17898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.4603dup
ENST00000328333.12:c.4603dup
ENST00000487017.5:n.520dup
NM_000094.3:c.4603dup , LRG_286t1:c.4603dup
XM_011533336.1:c.4630dup
XM_011533337.1:c.4603dup
XM_011533338.1:c.4630dup
XM_011533339.1:c.4630dup
XM_011533340.1:c.4630dup
XM_011533341.1:c.4630dup
XM_011533342.1:c.4630dup
XR_940369.1:n.4666dup
XR_940370.1:n.4666dup
XR_940371.1:n.4666dup
XR_940372.1:n.4666dup
XR_940373.1:n.4666dup
XR_940374.1:n.4666dup
XR_940375.1:n.4666dup
XM_017005688.1:c.4603dup
XM_017005689.1:c.4603dup
XM_017005690.1:c.4603dup
XM_017005691.1:c.4603dup
XM_017005692.1:c.4603dup
XR_001740003.1:n.4639dup
XR_001740004.1:n.4639dup
XR_001740005.1:n.4639dup
XR_001740006.1:n.4639dup
XR_001740007.1:n.4639dup
XR_001740008.1:n.4639dup
XR_001740009.1:n.4639dup
NM_000094.4:c.4603dup