Canonical Allele Identifier: CA2378111

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566730C>T , CM000665.2:g.48566730C>T	GRCh38
NC_000003.11:g.48604163C>T , CM000665.1:g.48604163C>T	GRCh37
NC_000003.10:g.48579167C>T	NCBI36
NG_007065.1:g.33523G>A , LRG_286:g.33523G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8234G>A MANE Select	NP_000085.1:p.Arg2745Gln
ENST00000681320.1:c.8234G>A MANE Select	ENSP00000506558.1:p.Arg2745Gln
NM_000094.3:c.8234G>A , LRG_286t1:c.8234G>A	NP_000085.1:p.Arg2745Gln
ENST00000328333.12:c.8234G>A	ENSP00000332371.8:p.Arg2745Gln
ENST00000474432.1:n.634G>A
ENST00000487017.5:n.4873G>A
XM_011533336.1:c.8261G>A	XP_011531638.1:p.Arg2754Gln
XM_011533337.1:c.8234G>A	XP_011531639.1:p.Arg2745Gln
XM_011533338.1:c.8201G>A	XP_011531640.1:p.Arg2734Gln
XM_017005688.1:c.8174G>A	XP_016861177.1:p.Arg2725Gln
XR_001740003.1:n.8270G>A
XR_001740004.1:n.8270G>A
XR_001740005.1:n.8270G>A
XR_940369.1:n.8297G>A
XR_940370.1:n.8297G>A
XR_940371.1:n.8297G>A