Canonical Allele Identifier: CA352639498

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566930G>T , CM000665.2:g.48566930G>T	GRCh38
NC_000003.11:g.48604363G>T , CM000665.1:g.48604363G>T	GRCh37
NC_000003.10:g.48579367G>T	NCBI36
NG_007065.1:g.33323C>A , LRG_286:g.33323C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8203C>A MANE Select	NP_000085.1:p.Pro2735Thr
ENST00000681320.1:c.8203C>A MANE Select	ENSP00000506558.1:p.Pro2735Thr
NM_000094.3:c.8203C>A , LRG_286t1:c.8203C>A	NP_000085.1:p.Pro2735Thr
ENST00000328333.12:c.8203C>A	ENSP00000332371.8:p.Pro2735Thr
ENST00000474432.1:n.434C>A
ENST00000487017.5:n.4842C>A
XM_011533336.1:c.8230C>A	XP_011531638.1:p.Pro2744Thr
XM_011533337.1:c.8203C>A	XP_011531639.1:p.Pro2735Thr
XM_011533338.1:c.8170C>A	XP_011531640.1:p.Pro2724Thr
XM_017005688.1:c.8143C>A	XP_016861177.1:p.Pro2715Thr
XR_001740003.1:n.8239C>A
XR_001740004.1:n.8239C>A
XR_001740005.1:n.8239C>A
XR_940369.1:n.8266C>A
XR_940370.1:n.8266C>A
XR_940371.1:n.8266C>A