Canonical Allele Identifier: CA2378012

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565636G>A , CM000665.2:g.48565636G>A	GRCh38
NC_000003.11:g.48603069G>A , CM000665.1:g.48603069G>A	GRCh37
NC_000003.10:g.48578073G>A	NCBI36
NG_007065.1:g.34617C>T , LRG_286:g.34617C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8440C>T MANE Select	NP_000085.1:p.Arg2814Ter
ENST00000681320.1:c.8440C>T MANE Select	ENSP00000506558.1:p.Arg2814Ter
NM_000094.3:c.8440C>T , LRG_286t1:c.8440C>T	NP_000085.1:p.Arg2814Ter
ENST00000328333.12:c.8440C>T	ENSP00000332371.8:p.Arg2814Ter
ENST00000487017.5:n.5079C>T
XM_011533336.1:c.8467C>T	XP_011531638.1:p.Arg2823Ter
XM_011533337.1:c.8440C>T	XP_011531639.1:p.Arg2814Ter
XM_011533338.1:c.8407C>T	XP_011531640.1:p.Arg2803Ter
XM_017005688.1:c.8380C>T	XP_016861177.1:p.Arg2794Ter
XR_001740003.1:n.8476C>T
XR_001740004.1:n.8476C>T
XR_001740005.1:n.8476C>T
XR_940369.1:n.8503C>T
XR_940370.1:n.8503C>T
XR_940371.1:n.8503C>T