Canonical Allele Identifier: CA2377885

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564849G>A , CM000665.2:g.48564849G>A	GRCh38
NC_000003.11:g.48602282G>A , CM000665.1:g.48602282G>A	GRCh37
NC_000003.10:g.48577286G>A	NCBI36
NG_007065.1:g.35404C>T , LRG_286:g.35404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8752C>T MANE Select	ENSP00000506558.1:p.Arg2918Cys
ENST00000328333.12:c.8752C>T	ENSP00000332371.8:p.Arg2918Cys
ENST00000465238.5:n.171C>T
ENST00000466591.1:n.363C>T
ENST00000470076.1:n.144C>T
ENST00000487017.5:n.5391C>T
NM_000094.3:c.8752C>T , LRG_286t1:c.8752C>T	NP_000085.1:p.Arg2918Cys
XM_011533336.1:c.8779C>T	XP_011531638.1:p.Arg2927Cys
XM_011533337.1:c.8752C>T	XP_011531639.1:p.Arg2918Cys
XM_011533338.1:c.8719C>T	XP_011531640.1:p.Arg2907Cys
XR_940369.1:n.8888C>T
XR_940370.1:n.8852C>T
XR_940371.1:n.8849C>T
XM_017005688.1:c.8692C>T	XP_016861177.1:p.Arg2898Cys
XR_001740003.1:n.8861C>T
XR_001740004.1:n.8825C>T
XR_001740005.1:n.8822C>T
NM_000094.4:c.8752C>T MANE Select	NP_000085.1:p.Arg2918Cys