Canonical Allele Identifier: CA433533233

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48568523-A-T
• MyVariant Identifiers: chr3:g.48605956A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568523A>T , CM000665.2:g.48568523A>T	GRCh38
NC_000003.11:g.48605956A>T , CM000665.1:g.48605956A>T	GRCh37
NC_000003.10:g.48580960A>T	NCBI36
NG_007065.1:g.31730T>A , LRG_286:g.31730T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7770T>A MANE Select	ENSP00000506558.1:p.Gly2590=
ENST00000328333.12:c.7770T>A	ENSP00000332371.8:p.Gly2590=
ENST00000459756.5:n.593T>A
ENST00000467985.1:n.616T>A
ENST00000487017.5:n.4409T>A
NM_000094.3:c.7770T>A , LRG_286t1:c.7770T>A	NP_000085.1:p.Gly2590=
XM_011533336.1:c.7797T>A	XP_011531638.1:p.Gly2599=
XM_011533337.1:c.7770T>A	XP_011531639.1:p.Gly2590=
XM_011533338.1:c.7737T>A	XP_011531640.1:p.Gly2579=
XM_011533339.1:c.7797T>A	XP_011531641.1:p.Gly2599=
XR_940369.1:n.7833T>A
XR_940370.1:n.7833T>A
XR_940371.1:n.7833T>A
XR_940372.1:n.7807T>A
XM_017005688.1:c.7710T>A	XP_016861177.1:p.Gly2570=
XM_017005689.1:c.7770T>A	XP_016861178.1:p.Gly2590=
XR_001740003.1:n.7806T>A
XR_001740004.1:n.7806T>A
XR_001740005.1:n.7806T>A
XR_001740006.1:n.7780T>A
NM_000094.4:c.7770T>A MANE Select	NP_000085.1:p.Gly2590=