Canonical Allele Identifier: CA2377905

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564975A>G , CM000665.2:g.48564975A>G	GRCh38
NC_000003.11:g.48602408A>G , CM000665.1:g.48602408A>G	GRCh37
NC_000003.10:g.48577412A>G	NCBI36
NG_007065.1:g.35278T>C , LRG_286:g.35278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8626T>C MANE Select	ENSP00000506558.1:p.Cys2876Arg
ENST00000328333.12:c.8626T>C	ENSP00000332371.8:p.Cys2876Arg
ENST00000465238.5:n.45T>C
ENST00000466591.1:n.237T>C
ENST00000470076.1:n.18T>C
ENST00000487017.5:n.5265T>C
NM_000094.3:c.8626T>C , LRG_286t1:c.8626T>C	NP_000085.1:p.Cys2876Arg
XM_011533336.1:c.8653T>C	XP_011531638.1:p.Cys2885Arg
XM_011533337.1:c.8626T>C	XP_011531639.1:p.Cys2876Arg
XM_011533338.1:c.8593T>C	XP_011531640.1:p.Cys2865Arg
XR_940369.1:n.8762T>C
XR_940370.1:n.8726T>C
XR_940371.1:n.8723T>C
XM_017005688.1:c.8566T>C	XP_016861177.1:p.Cys2856Arg
XR_001740003.1:n.8735T>C
XR_001740004.1:n.8699T>C
XR_001740005.1:n.8696T>C
NM_000094.4:c.8626T>C MANE Select	NP_000085.1:p.Cys2876Arg