Canonical Allele Identifier: CA352633036

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564872C>A , CM000665.2:g.48564872C>A	GRCh38
NC_000003.11:g.48602305C>A , CM000665.1:g.48602305C>A	GRCh37
NC_000003.10:g.48577309C>A	NCBI36
NG_007065.1:g.35381G>T , LRG_286:g.35381G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.8729G>T MANE Select	NP_000085.1:p.Gly2910Val
ENST00000681320.1:c.8729G>T MANE Select	ENSP00000506558.1:p.Gly2910Val
NM_000094.3:c.8729G>T , LRG_286t1:c.8729G>T	NP_000085.1:p.Gly2910Val
ENST00000328333.12:c.8729G>T	ENSP00000332371.8:p.Gly2910Val
ENST00000465238.5:n.148G>T
ENST00000466591.1:n.340G>T
ENST00000470076.1:n.121G>T
ENST00000487017.5:n.5368G>T
XM_011533336.1:c.8756G>T	XP_011531638.1:p.Gly2919Val
XM_011533337.1:c.8729G>T	XP_011531639.1:p.Gly2910Val
XM_011533338.1:c.8696G>T	XP_011531640.1:p.Gly2899Val
XM_017005688.1:c.8669G>T	XP_016861177.1:p.Gly2890Val
XR_001740003.1:n.8838G>T
XR_001740004.1:n.8802G>T
XR_001740005.1:n.8799G>T
XR_940369.1:n.8865G>T
XR_940370.1:n.8829G>T
XR_940371.1:n.8826G>T