Canonical Allele Identifier: CA2377878

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564818C>T , CM000665.2:g.48564818C>T	GRCh38
NC_000003.11:g.48602251C>T , CM000665.1:g.48602251C>T	GRCh37
NC_000003.10:g.48577255C>T	NCBI36
NG_007065.1:g.35435G>A , LRG_286:g.35435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8783G>A MANE Select	ENSP00000506558.1:p.Arg2928His
ENST00000328333.12:c.8783G>A	ENSP00000332371.8:p.Arg2928His
ENST00000465238.5:n.202G>A
ENST00000466591.1:n.394G>A
ENST00000470076.1:n.175G>A
ENST00000487017.5:n.5422G>A
NM_000094.3:c.8783G>A , LRG_286t1:c.8783G>A	NP_000085.1:p.Arg2928His
XM_011533336.1:c.8810G>A	XP_011531638.1:p.Arg2937His
XM_011533337.1:c.8783G>A	XP_011531639.1:p.Arg2928His
XM_011533338.1:c.8750G>A	XP_011531640.1:p.Arg2917His
XR_940369.1:n.8919G>A
XR_940370.1:n.8883G>A
XR_940371.1:n.8880G>A
XM_017005688.1:c.8723G>A	XP_016861177.1:p.Arg2908His
XR_001740003.1:n.8892G>A
XR_001740004.1:n.8856G>A
XR_001740005.1:n.8853G>A
NM_000094.4:c.8783G>A MANE Select	NP_000085.1:p.Arg2928His