Canonical Allele Identifier: CA352647453

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48608073A>T (hg19) ; chr3:g.48570640A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570640A>T , CM000665.2:g.48570640A>T	GRCh38
NC_000003.11:g.48608073A>T , CM000665.1:g.48608073A>T	GRCh37
NC_000003.10:g.48583077A>T	NCBI36
NG_007065.1:g.29613T>A , LRG_286:g.29613T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7343T>A MANE Select	ENSP00000506558.1:p.Val2448Glu
ENST00000328333.12:c.7343T>A	ENSP00000332371.8:p.Val2448Glu
ENST00000422991.1:c.338T>A	ENSP00000391608.1:p.Val113Glu
ENST00000467985.1:n.93T>A
ENST00000487017.5:n.3982T>A
NM_000094.3:c.7343T>A , LRG_286t1:c.7343T>A	NP_000085.1:p.Val2448Glu
XM_011533336.1:c.7370T>A	XP_011531638.1:p.Val2457Glu
XM_011533337.1:c.7343T>A	XP_011531639.1:p.Val2448Glu
XM_011533338.1:c.7370T>A	XP_011531640.1:p.Val2457Glu
XM_011533339.1:c.7370T>A	XP_011531641.1:p.Val2457Glu
XM_011533340.1:c.7370T>A	XP_011531642.1:p.Val2457Glu
XM_011533341.1:c.7344T>A	XP_011531643.1:p.Ser2448Arg
XM_011533342.1:c.7344T>A	XP_011531644.1:p.Ser2448Arg
XR_940369.1:n.7406T>A
XR_940370.1:n.7406T>A
XR_940371.1:n.7406T>A
XR_940372.1:n.7380T>A
XM_017005688.1:c.7343T>A	XP_016861177.1:p.Val2448Glu
XM_017005689.1:c.7343T>A	XP_016861178.1:p.Val2448Glu
XM_017005690.1:c.7343T>A	XP_016861179.1:p.Val2448Glu
XM_017005691.1:c.7317T>A	XP_016861180.1:p.Ser2439Arg
XM_017005692.1:c.7317T>A	XP_016861181.1:p.Ser2439Arg
XR_001740003.1:n.7379T>A
XR_001740004.1:n.7379T>A
XR_001740005.1:n.7379T>A
XR_001740006.1:n.7353T>A
NM_000094.4:c.7343T>A MANE Select	NP_000085.1:p.Val2448Glu