Canonical Allele Identifier: CA2377893

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564892G>C , CM000665.2:g.48564892G>C	GRCh38
NC_000003.11:g.48602325G>C , CM000665.1:g.48602325G>C	GRCh37
NC_000003.10:g.48577329G>C	NCBI36
NG_007065.1:g.35361C>G , LRG_286:g.35361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8709C>G MANE Select	ENSP00000506558.1:p.Ala2903=
ENST00000328333.12:c.8709C>G	ENSP00000332371.8:p.Ala2903=
ENST00000465238.5:n.128C>G
ENST00000466591.1:n.320C>G
ENST00000470076.1:n.101C>G
ENST00000487017.5:n.5348C>G
NM_000094.3:c.8709C>G , LRG_286t1:c.8709C>G	NP_000085.1:p.Ala2903=
XM_011533336.1:c.8736C>G	XP_011531638.1:p.Ala2912=
XM_011533337.1:c.8709C>G	XP_011531639.1:p.Ala2903=
XM_011533338.1:c.8676C>G	XP_011531640.1:p.Ala2892=
XR_940369.1:n.8845C>G
XR_940370.1:n.8809C>G
XR_940371.1:n.8806C>G
XM_017005688.1:c.8649C>G	XP_016861177.1:p.Ala2883=
XR_001740003.1:n.8818C>G
XR_001740004.1:n.8782C>G
XR_001740005.1:n.8779C>G
NM_000094.4:c.8709C>G MANE Select	NP_000085.1:p.Ala2903=