Canonical Allele Identifier: CA1363079473

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570231A= , CM000665.2:g.48570231A=	GRCh38
NC_000003.11:g.48607664A= , CM000665.1:g.48607664A=	GRCh37
NC_000003.10:g.48582668A=	NCBI36
NG_007065.1:g.30022T= , LRG_286:g.30022T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+44T= MANE Select	ENSP00000506558.1:n.7440+44T=
ENST00000328333.12:c.7440+44T=	ENSP00000332371.8:n.7440+44T=
ENST00000422991.1:c.435+44T=	ENSP00000391608.1:n.435+44T=
ENST00000459756.5:n.211T=
ENST00000467985.1:n.234T=
ENST00000487017.5:n.4079+44T=
NM_000094.3:c.7440+44T= , LRG_286t1:c.7440+44T=	NP_000085.1:n.7440+44T=
XM_011533336.1:c.7467+44T=	XP_011531638.1:n.7467+44T=
XM_011533337.1:c.7440+44T=	XP_011531639.1:n.7440+44T=
XM_011533338.1:c.7408-53T=	XP_011531640.1:n.7408-53T=
XM_011533339.1:c.7467+44T=	XP_011531641.1:n.7467+44T=
XM_011533340.1:c.7429T=	XP_011531642.1:p.Ser2477=
XM_011533341.1:c.7403T=	XP_011531643.1:p.Leu2468=
XM_011533342.1:c.7382-53T=	XP_011531644.1:n.7382-53T=
XR_940369.1:n.7503+44T=
XR_940370.1:n.7503+44T=
XR_940371.1:n.7503+44T=
XR_940372.1:n.7477+44T=
XM_017005688.1:c.7381-53T=	XP_016861177.1:n.7381-53T=
XM_017005689.1:c.7440+44T=	XP_016861178.1:n.7440+44T=
XM_017005690.1:c.7402T=	XP_016861179.1:p.Ser2468=
XM_017005691.1:c.7376T=	XP_016861180.1:p.Leu2459=
XM_017005692.1:c.7355-53T=	XP_016861181.1:n.7355-53T=
XR_001740003.1:n.7476+44T=
XR_001740004.1:n.7476+44T=
XR_001740005.1:n.7476+44T=
XR_001740006.1:n.7450+44T=
NM_000094.4:c.7440+44T= MANE Select	NP_000085.1:n.7440+44T=