Canonical Allele Identifier: CA352640428

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567136C>A , CM000665.2:g.48567136C>A	GRCh38
NC_000003.11:g.48604569C>A , CM000665.1:g.48604569C>A	GRCh37
NC_000003.10:g.48579573C>A	NCBI36
NG_007065.1:g.33117G>T , LRG_286:g.33117G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8101G>T MANE Select	NP_000085.1:p.Gly2701Trp
ENST00000681320.1:c.8101G>T MANE Select	ENSP00000506558.1:p.Gly2701Trp
NM_000094.3:c.8101G>T , LRG_286t1:c.8101G>T	NP_000085.1:p.Gly2701Trp
ENST00000328333.12:c.8101G>T	ENSP00000332371.8:p.Gly2701Trp
ENST00000474432.1:n.228G>T
ENST00000487017.5:n.4740G>T
XM_011533336.1:c.8128G>T	XP_011531638.1:p.Gly2710Trp
XM_011533337.1:c.8101G>T	XP_011531639.1:p.Gly2701Trp
XM_011533338.1:c.8068G>T	XP_011531640.1:p.Gly2690Trp
XM_017005688.1:c.8041G>T	XP_016861177.1:p.Gly2681Trp
XR_001740003.1:n.8137G>T
XR_001740004.1:n.8137G>T
XR_001740005.1:n.8137G>T
XR_940369.1:n.8164G>T
XR_940370.1:n.8164G>T
XR_940371.1:n.8164G>T