Canonical Allele Identifier: CA433533828

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607573T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570140T>A , CM000665.2:g.48570140T>A	GRCh38
NC_000003.11:g.48607573T>A , CM000665.1:g.48607573T>A	GRCh37
NC_000003.10:g.48582577T>A	NCBI36
NG_007065.1:g.30113A>T , LRG_286:g.30113A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7479A>T MANE Select	ENSP00000506558.1:p.Gly2493=
ENST00000328333.12:c.7479A>T	ENSP00000332371.8:p.Gly2493=
ENST00000422991.1:c.474A>T	ENSP00000391608.1:p.Gly158=
ENST00000459756.5:n.302A>T
ENST00000467985.1:n.325A>T
ENST00000487017.5:n.4118A>T
NM_000094.3:c.7479A>T , LRG_286t1:c.7479A>T	NP_000085.1:p.Gly2493=
XM_011533336.1:c.7506A>T	XP_011531638.1:p.Gly2502=
XM_011533337.1:c.7479A>T	XP_011531639.1:p.Gly2493=
XM_011533338.1:c.7446A>T	XP_011531640.1:p.Gly2482=
XM_011533339.1:c.7506A>T	XP_011531641.1:p.Gly2502=
XM_011533342.1:c.*34A>T	XP_011531644.1:n.*34A>T
XR_940369.1:n.7542A>T
XR_940370.1:n.7542A>T
XR_940371.1:n.7542A>T
XR_940372.1:n.7516A>T
XM_017005688.1:c.7419A>T	XP_016861177.1:p.Gly2473=
XM_017005689.1:c.7479A>T	XP_016861178.1:p.Gly2493=
XM_017005692.1:c.*34A>T	XP_016861181.1:n.*34A>T
XR_001740003.1:n.7515A>T
XR_001740004.1:n.7515A>T
XR_001740005.1:n.7515A>T
XR_001740006.1:n.7489A>T
NM_000094.4:c.7479A>T MANE Select	NP_000085.1:p.Gly2493=