Canonical Allele Identifier: CA352645718

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607586T>A (hg19) ; chr3:g.48570153T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570153T>A , CM000665.2:g.48570153T>A	GRCh38
NC_000003.11:g.48607586T>A , CM000665.1:g.48607586T>A	GRCh37
NC_000003.10:g.48582590T>A	NCBI36
NG_007065.1:g.30100A>T , LRG_286:g.30100A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7466A>T MANE Select	ENSP00000506558.1:p.Glu2489Val
ENST00000328333.12:c.7466A>T	ENSP00000332371.8:p.Glu2489Val
ENST00000422991.1:c.461A>T	ENSP00000391608.1:p.Glu154Val
ENST00000459756.5:n.289A>T
ENST00000467985.1:n.312A>T
ENST00000487017.5:n.4105A>T
NM_000094.3:c.7466A>T , LRG_286t1:c.7466A>T	NP_000085.1:p.Glu2489Val
XM_011533336.1:c.7493A>T	XP_011531638.1:p.Glu2498Val
XM_011533337.1:c.7466A>T	XP_011531639.1:p.Glu2489Val
XM_011533338.1:c.7433A>T	XP_011531640.1:p.Glu2478Val
XM_011533339.1:c.7493A>T	XP_011531641.1:p.Glu2498Val
XM_011533342.1:c.*21A>T	XP_011531644.1:n.*21A>T
XR_940369.1:n.7529A>T
XR_940370.1:n.7529A>T
XR_940371.1:n.7529A>T
XR_940372.1:n.7503A>T
XM_017005688.1:c.7406A>T	XP_016861177.1:p.Glu2469Val
XM_017005689.1:c.7466A>T	XP_016861178.1:p.Glu2489Val
XM_017005692.1:c.*21A>T	XP_016861181.1:n.*21A>T
XR_001740003.1:n.7502A>T
XR_001740004.1:n.7502A>T
XR_001740005.1:n.7502A>T
XR_001740006.1:n.7476A>T
NM_000094.4:c.7466A>T MANE Select	NP_000085.1:p.Glu2489Val