Canonical Allele Identifier: CA16617979

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568137G>A , CM000665.2:g.48568137G>A	GRCh38
NC_000003.11:g.48605570G>A , CM000665.1:g.48605570G>A	GRCh37
NC_000003.10:g.48580574G>A	NCBI36
NG_007065.1:g.32116C>T , LRG_286:g.32116C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7828C>T MANE Select	NP_000085.1:p.Arg2610Ter
ENST00000681320.1:c.7828C>T MANE Select	ENSP00000506558.1:p.Arg2610Ter
NM_000094.3:c.7828C>T , LRG_286t1:c.7828C>T	NP_000085.1:p.Arg2610Ter
ENST00000328333.12:c.7828C>T	ENSP00000332371.8:p.Arg2610Ter
ENST00000459756.5:n.651C>T
ENST00000487017.5:n.4467C>T
XM_011533336.1:c.7855C>T	XP_011531638.1:p.Arg2619Ter
XM_011533337.1:c.7828C>T	XP_011531639.1:p.Arg2610Ter
XM_011533338.1:c.7795C>T	XP_011531640.1:p.Arg2599Ter
XM_017005688.1:c.7768C>T	XP_016861177.1:p.Arg2590Ter
XR_001740003.1:n.7864C>T
XR_001740004.1:n.7864C>T
XR_001740005.1:n.7864C>T
XR_001740006.1:n.7838C>T
XR_940369.1:n.7891C>T
XR_940370.1:n.7891C>T
XR_940371.1:n.7891C>T
XR_940372.1:n.7865C>T