Canonical Allele Identifier: CA352640761

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567184G>A , CM000665.2:g.48567184G>A	GRCh38
NC_000003.11:g.48604617G>A , CM000665.1:g.48604617G>A	GRCh37
NC_000003.10:g.48579621G>A	NCBI36
NG_007065.1:g.33069C>T , LRG_286:g.33069C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8053C>T MANE Select	NP_000085.1:p.Arg2685Ter
ENST00000681320.1:c.8053C>T MANE Select	ENSP00000506558.1:p.Arg2685Ter
NM_000094.3:c.8053C>T , LRG_286t1:c.8053C>T	NP_000085.1:p.Arg2685Ter
ENST00000328333.12:c.8053C>T	ENSP00000332371.8:p.Arg2685Ter
ENST00000474432.1:n.180C>T
ENST00000487017.5:n.4692C>T
XM_011533336.1:c.8080C>T	XP_011531638.1:p.Arg2694Ter
XM_011533337.1:c.8053C>T	XP_011531639.1:p.Arg2685Ter
XM_011533338.1:c.8020C>T	XP_011531640.1:p.Arg2674Ter
XM_017005688.1:c.7993C>T	XP_016861177.1:p.Arg2665Ter
XR_001740003.1:n.8089C>T
XR_001740004.1:n.8089C>T
XR_001740005.1:n.8089C>T
XR_940369.1:n.8116C>T
XR_940370.1:n.8116C>T
XR_940371.1:n.8116C>T