Canonical Allele Identifier: CA1363079180

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570022G= , CM000665.2:g.48570022G=	GRCh38
NC_000003.11:g.48607455G= , CM000665.1:g.48607455G=	GRCh37
NC_000003.10:g.48582459G=	NCBI36
NG_007065.1:g.30231C= , LRG_286:g.30231C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7486-107C= MANE Select	ENSP00000506558.1:n.7486-107C=
ENST00000328333.12:c.7486-107C=	ENSP00000332371.8:n.7486-107C=
ENST00000422991.1:c.481-107C=	ENSP00000391608.1:n.481-107C=
ENST00000459756.5:n.309-107C=
ENST00000467985.1:n.332-107C=
ENST00000487017.5:n.4125-107C=
NM_000094.3:c.7486-107C= , LRG_286t1:c.7486-107C=	NP_000085.1:n.7486-107C=
XM_011533336.1:c.7513-107C=	XP_011531638.1:n.7513-107C=
XM_011533337.1:c.7486-107C=	XP_011531639.1:n.7486-107C=
XM_011533338.1:c.7453-107C=	XP_011531640.1:n.7453-107C=
XM_011533339.1:c.7513-107C=	XP_011531641.1:n.7513-107C=
XM_011533342.1:c.*41-107C=	XP_011531644.1:n.*41-107C=
XR_940369.1:n.7549-107C=
XR_940370.1:n.7549-107C=
XR_940371.1:n.7549-107C=
XR_940372.1:n.7523-107C=
XM_017005688.1:c.7426-107C=	XP_016861177.1:n.7426-107C=
XM_017005689.1:c.7486-107C=	XP_016861178.1:n.7486-107C=
XM_017005692.1:c.*41-107C=	XP_016861181.1:n.*41-107C=
XR_001740003.1:n.7522-107C=
XR_001740004.1:n.7522-107C=
XR_001740005.1:n.7522-107C=
XR_001740006.1:n.7496-107C=
NM_000094.4:c.7486-107C= MANE Select	NP_000085.1:n.7486-107C=