Canonical Allele Identifier: CA352632473

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564795T>G , CM000665.2:g.48564795T>G	GRCh38
NC_000003.11:g.48602228T>G , CM000665.1:g.48602228T>G	GRCh37
NC_000003.10:g.48577232T>G	NCBI36
NG_007065.1:g.35458A>C , LRG_286:g.35458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8806A>C MANE Select	ENSP00000506558.1:p.Ser2936Arg
ENST00000328333.12:c.8806A>C	ENSP00000332371.8:p.Ser2936Arg
ENST00000465238.5:n.225A>C
ENST00000466591.1:n.417A>C
ENST00000470076.1:n.198A>C
ENST00000487017.5:n.5445A>C
NM_000094.3:c.8806A>C , LRG_286t1:c.8806A>C	NP_000085.1:p.Ser2936Arg
XM_011533336.1:c.8833A>C	XP_011531638.1:p.Ser2945Arg
XM_011533337.1:c.8806A>C	XP_011531639.1:p.Ser2936Arg
XM_011533338.1:c.8773A>C	XP_011531640.1:p.Ser2925Arg
XR_940369.1:n.8942A>C
XR_940370.1:n.8906A>C
XR_940371.1:n.8903A>C
XM_017005688.1:c.8746A>C	XP_016861177.1:p.Ser2916Arg
XR_001740003.1:n.8915A>C
XR_001740004.1:n.8879A>C
XR_001740005.1:n.8876A>C
NM_000094.4:c.8806A>C MANE Select	NP_000085.1:p.Ser2936Arg