Canonical Allele Identifier: CA352633337

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564925C>G , CM000665.2:g.48564925C>G	GRCh38
NC_000003.11:g.48602358C>G , CM000665.1:g.48602358C>G	GRCh37
NC_000003.10:g.48577362C>G	NCBI36
NG_007065.1:g.35328G>C , LRG_286:g.35328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8676G>C MANE Select	ENSP00000506558.1:p.Trp2892Cys
ENST00000328333.12:c.8676G>C	ENSP00000332371.8:p.Trp2892Cys
ENST00000465238.5:n.95G>C
ENST00000466591.1:n.287G>C
ENST00000470076.1:n.68G>C
ENST00000487017.5:n.5315G>C
NM_000094.3:c.8676G>C , LRG_286t1:c.8676G>C	NP_000085.1:p.Trp2892Cys
XM_011533336.1:c.8703G>C	XP_011531638.1:p.Trp2901Cys
XM_011533337.1:c.8676G>C	XP_011531639.1:p.Trp2892Cys
XM_011533338.1:c.8643G>C	XP_011531640.1:p.Trp2881Cys
XR_940369.1:n.8812G>C
XR_940370.1:n.8776G>C
XR_940371.1:n.8773G>C
XM_017005688.1:c.8616G>C	XP_016861177.1:p.Trp2872Cys
XR_001740003.1:n.8785G>C
XR_001740004.1:n.8749G>C
XR_001740005.1:n.8746G>C
NM_000094.4:c.8676G>C MANE Select	NP_000085.1:p.Trp2892Cys