Canonical Allele Identifier: CA1363079497

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570244G= , CM000665.2:g.48570244G=	GRCh38
NC_000003.11:g.48607677G= , CM000665.1:g.48607677G=	GRCh37
NC_000003.10:g.48582681G=	NCBI36
NG_007065.1:g.30009C= , LRG_286:g.30009C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7440+31C= MANE Select	ENSP00000506558.1:n.7440+31C=
ENST00000328333.12:c.7440+31C=	ENSP00000332371.8:n.7440+31C=
ENST00000422991.1:c.435+31C=	ENSP00000391608.1:n.435+31C=
ENST00000459756.5:n.198C=
ENST00000467985.1:n.221C=
ENST00000487017.5:n.4079+31C=
NM_000094.3:c.7440+31C= , LRG_286t1:c.7440+31C=	NP_000085.1:n.7440+31C=
XM_011533336.1:c.7467+31C=	XP_011531638.1:n.7467+31C=
XM_011533337.1:c.7440+31C=	XP_011531639.1:n.7440+31C=
XM_011533338.1:c.7408-66C=	XP_011531640.1:n.7408-66C=
XM_011533339.1:c.7467+31C=	XP_011531641.1:n.7467+31C=
XM_011533340.1:c.7416C=	XP_011531642.1:p.Ser2472=
XM_011533341.1:c.7390C=	XP_011531643.1:p.Pro2464=
XM_011533342.1:c.7382-66C=	XP_011531644.1:n.7382-66C=
XR_940369.1:n.7503+31C=
XR_940370.1:n.7503+31C=
XR_940371.1:n.7503+31C=
XR_940372.1:n.7477+31C=
XM_017005688.1:c.7381-66C=	XP_016861177.1:n.7381-66C=
XM_017005689.1:c.7440+31C=	XP_016861178.1:n.7440+31C=
XM_017005690.1:c.7389C=	XP_016861179.1:p.Ser2463=
XM_017005691.1:c.7363C=	XP_016861180.1:p.Pro2455=
XM_017005692.1:c.7355-66C=	XP_016861181.1:n.7355-66C=
XR_001740003.1:n.7476+31C=
XR_001740004.1:n.7476+31C=
XR_001740005.1:n.7476+31C=
XR_001740006.1:n.7450+31C=
NM_000094.4:c.7440+31C= MANE Select	NP_000085.1:n.7440+31C=