Canonical Allele Identifier: CA1363080175

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566287T= , CM000665.2:g.48566287T=	GRCh38
NC_000003.11:g.48603720T= , CM000665.1:g.48603720T=	GRCh37
NC_000003.10:g.48578724T=	NCBI36
NG_007065.1:g.33966A= , LRG_286:g.33966A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8387A= MANE Select	ENSP00000506558.1:p.Gln2796=
ENST00000328333.12:c.8387A=	ENSP00000332371.8:p.Gln2796=
ENST00000487017.5:n.5026A=
NM_000094.3:c.8387A= , LRG_286t1:c.8387A=	NP_000085.1:p.Gln2796=
XM_011533336.1:c.8414A=	XP_011531638.1:p.Gln2805=
XM_011533337.1:c.8387A=	XP_011531639.1:p.Gln2796=
XM_011533338.1:c.8354A=	XP_011531640.1:p.Gln2785=
XR_940369.1:n.8450A=
XR_940370.1:n.8450A=
XR_940371.1:n.8450A=
XM_017005688.1:c.8327A=	XP_016861177.1:p.Gln2776=
XR_001740003.1:n.8423A=
XR_001740004.1:n.8423A=
XR_001740005.1:n.8423A=
NM_000094.4:c.8387A= MANE Select	NP_000085.1:p.Gln2796=