Canonical Allele Identifier: CA2838844869

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570039G>T , CM000665.2:g.48570039G>T	GRCh38
NC_000003.11:g.48607472G>T , CM000665.1:g.48607472G>T	GRCh37
NC_000003.10:g.48582476G>T	NCBI36
NG_007065.1:g.30214C>A , LRG_286:g.30214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7485+95C>A MANE Select	ENSP00000506558.1:n.7485+95C>A
ENST00000328333.12:c.7485+95C>A	ENSP00000332371.8:n.7485+95C>A
ENST00000422991.1:c.480+95C>A	ENSP00000391608.1:n.480+95C>A
ENST00000459756.5:n.308+95C>A
ENST00000467985.1:n.331+95C>A
ENST00000487017.5:n.4124+95C>A
NM_000094.3:c.7485+95C>A , LRG_286t1:c.7485+95C>A	NP_000085.1:n.7485+95C>A
XM_011533336.1:c.7512+95C>A	XP_011531638.1:n.7512+95C>A
XM_011533337.1:c.7485+95C>A	XP_011531639.1:n.7485+95C>A
XM_011533338.1:c.7452+95C>A	XP_011531640.1:n.7452+95C>A
XM_011533339.1:c.7512+95C>A	XP_011531641.1:n.7512+95C>A
XM_011533342.1:c.*40+95C>A	XP_011531644.1:n.*40+95C>A
XR_940369.1:n.7548+95C>A
XR_940370.1:n.7548+95C>A
XR_940371.1:n.7548+95C>A
XR_940372.1:n.7522+95C>A
XM_017005688.1:c.7425+95C>A	XP_016861177.1:n.7425+95C>A
XM_017005689.1:c.7485+95C>A	XP_016861178.1:n.7485+95C>A
XM_017005692.1:c.*40+95C>A	XP_016861181.1:n.*40+95C>A
XR_001740003.1:n.7521+95C>A
XR_001740004.1:n.7521+95C>A
XR_001740005.1:n.7521+95C>A
XR_001740006.1:n.7495+95C>A
NM_000094.4:c.7485+95C>A MANE Select	NP_000085.1:n.7485+95C>A