Canonical Allele Identifier: CA352645885

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607607T>A (hg19) ; chr3:g.48570174T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570174T>A , CM000665.2:g.48570174T>A	GRCh38
NC_000003.11:g.48607607T>A , CM000665.1:g.48607607T>A	GRCh37
NC_000003.10:g.48582611T>A	NCBI36
NG_007065.1:g.30079A>T , LRG_286:g.30079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7445A>T MANE Select	ENSP00000506558.1:p.Glu2482Val
ENST00000328333.12:c.7445A>T	ENSP00000332371.8:p.Glu2482Val
ENST00000422991.1:c.440A>T	ENSP00000391608.1:p.Glu147Val
ENST00000459756.5:n.268A>T
ENST00000467985.1:n.291A>T
ENST00000487017.5:n.4084A>T
NM_000094.3:c.7445A>T , LRG_286t1:c.7445A>T	NP_000085.1:p.Glu2482Val
XM_011533336.1:c.7472A>T	XP_011531638.1:p.Glu2491Val
XM_011533337.1:c.7445A>T	XP_011531639.1:p.Glu2482Val
XM_011533338.1:c.7412A>T	XP_011531640.1:p.Glu2471Val
XM_011533339.1:c.7472A>T	XP_011531641.1:p.Glu2491Val
XM_011533340.1:c.*46A>T	XP_011531642.1:n.*46A>T
XM_011533341.1:c.*32A>T	XP_011531643.1:n.*32A>T
XM_011533342.1:c.7386A>T	XP_011531644.1:p.Ter2462Cys
XR_940369.1:n.7508A>T
XR_940370.1:n.7508A>T
XR_940371.1:n.7508A>T
XR_940372.1:n.7482A>T
XM_017005688.1:c.7385A>T	XP_016861177.1:p.Glu2462Val
XM_017005689.1:c.7445A>T	XP_016861178.1:p.Glu2482Val
XM_017005690.1:c.*46A>T	XP_016861179.1:n.*46A>T
XM_017005691.1:c.*32A>T	XP_016861180.1:n.*32A>T
XM_017005692.1:c.7359A>T	XP_016861181.1:p.Ter2453Cys
XR_001740003.1:n.7481A>T
XR_001740004.1:n.7481A>T
XR_001740005.1:n.7481A>T
XR_001740006.1:n.7455A>T
NM_000094.4:c.7445A>T MANE Select	NP_000085.1:p.Glu2482Val