Canonical Allele Identifier: CA433531222

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564799G>A , CM000665.2:g.48564799G>A	GRCh38
NC_000003.11:g.48602232G>A , CM000665.1:g.48602232G>A	GRCh37
NC_000003.10:g.48577236G>A	NCBI36
NG_007065.1:g.35454C>T , LRG_286:g.35454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8802C>T MANE Select	ENSP00000506558.1:p.Val2934=
ENST00000328333.12:c.8802C>T	ENSP00000332371.8:p.Val2934=
ENST00000465238.5:n.221C>T
ENST00000466591.1:n.413C>T
ENST00000470076.1:n.194C>T
ENST00000487017.5:n.5441C>T
NM_000094.3:c.8802C>T , LRG_286t1:c.8802C>T	NP_000085.1:p.Val2934=
XM_011533336.1:c.8829C>T	XP_011531638.1:p.Val2943=
XM_011533337.1:c.8802C>T	XP_011531639.1:p.Val2934=
XM_011533338.1:c.8769C>T	XP_011531640.1:p.Val2923=
XR_940369.1:n.8938C>T
XR_940370.1:n.8902C>T
XR_940371.1:n.8899C>T
XM_017005688.1:c.8742C>T	XP_016861177.1:p.Val2914=
XR_001740003.1:n.8911C>T
XR_001740004.1:n.8875C>T
XR_001740005.1:n.8872C>T
NM_000094.4:c.8802C>T MANE Select	NP_000085.1:p.Val2934=