Canonical Allele Identifier: CA352633819

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48565120C>T , CM000665.2:g.48565120C>T	GRCh38
NC_000003.11:g.48602553C>T , CM000665.1:g.48602553C>T	GRCh37
NC_000003.10:g.48577557C>T	NCBI36
NG_007065.1:g.35133G>A , LRG_286:g.35133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8609G>A MANE Select	ENSP00000506558.1:p.Trp2870Ter
ENST00000328333.12:c.8609G>A	ENSP00000332371.8:p.Trp2870Ter
ENST00000466591.1:n.220G>A
ENST00000487017.5:n.5248G>A
NM_000094.3:c.8609G>A , LRG_286t1:c.8609G>A	NP_000085.1:p.Trp2870Ter
XM_011533336.1:c.8636G>A	XP_011531638.1:p.Trp2879Ter
XM_011533337.1:c.8609G>A	XP_011531639.1:p.Trp2870Ter
XM_011533338.1:c.8576G>A	XP_011531640.1:p.Trp2859Ter
XR_940369.1:n.8745G>A
XR_940370.1:n.8709G>A
XR_940371.1:n.8706G>A
XM_017005688.1:c.8549G>A	XP_016861177.1:p.Trp2850Ter
XR_001740003.1:n.8718G>A
XR_001740004.1:n.8682G>A
XR_001740005.1:n.8679G>A
NM_000094.4:c.8609G>A MANE Select	NP_000085.1:p.Trp2870Ter