Canonical Allele Identifier: CA2377887

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564854G>A , CM000665.2:g.48564854G>A	GRCh38
NC_000003.11:g.48602287G>A , CM000665.1:g.48602287G>A	GRCh37
NC_000003.10:g.48577291G>A	NCBI36
NG_007065.1:g.35399C>T , LRG_286:g.35399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8747C>T MANE Select	ENSP00000506558.1:p.Ala2916Val
ENST00000328333.12:c.8747C>T	ENSP00000332371.8:p.Ala2916Val
ENST00000465238.5:n.166C>T
ENST00000466591.1:n.358C>T
ENST00000470076.1:n.139C>T
ENST00000487017.5:n.5386C>T
NM_000094.3:c.8747C>T , LRG_286t1:c.8747C>T	NP_000085.1:p.Ala2916Val
XM_011533336.1:c.8774C>T	XP_011531638.1:p.Ala2925Val
XM_011533337.1:c.8747C>T	XP_011531639.1:p.Ala2916Val
XM_011533338.1:c.8714C>T	XP_011531640.1:p.Ala2905Val
XR_940369.1:n.8883C>T
XR_940370.1:n.8847C>T
XR_940371.1:n.8844C>T
XM_017005688.1:c.8687C>T	XP_016861177.1:p.Ala2896Val
XR_001740003.1:n.8856C>T
XR_001740004.1:n.8820C>T
XR_001740005.1:n.8817C>T
NM_000094.4:c.8747C>T MANE Select	NP_000085.1:p.Ala2916Val