Canonical Allele Identifier: CA352643195

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48606265G>C (hg19) ; chr3:g.48568832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568832G>C , CM000665.2:g.48568832G>C	GRCh38
NC_000003.11:g.48606265G>C , CM000665.1:g.48606265G>C	GRCh37
NC_000003.10:g.48581269G>C	NCBI36
NG_007065.1:g.31421C>G , LRG_286:g.31421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7710C>G MANE Select	ENSP00000506558.1:p.Asp2570Glu
ENST00000328333.12:c.7710C>G	ENSP00000332371.8:p.Asp2570Glu
ENST00000459756.5:n.533C>G
ENST00000467985.1:n.556C>G
ENST00000487017.5:n.4349C>G
NM_000094.3:c.7710C>G , LRG_286t1:c.7710C>G	NP_000085.1:p.Asp2570Glu
XM_011533336.1:c.7737C>G	XP_011531638.1:p.Asp2579Glu
XM_011533337.1:c.7710C>G	XP_011531639.1:p.Asp2570Glu
XM_011533338.1:c.7677C>G	XP_011531640.1:p.Asp2559Glu
XM_011533339.1:c.7737C>G	XP_011531641.1:p.Asp2579Glu
XR_940369.1:n.7773C>G
XR_940370.1:n.7773C>G
XR_940371.1:n.7773C>G
XR_940372.1:n.7747C>G
XM_017005688.1:c.7650C>G	XP_016861177.1:p.Asp2550Glu
XM_017005689.1:c.7710C>G	XP_016861178.1:p.Asp2570Glu
XR_001740003.1:n.7746C>G
XR_001740004.1:n.7746C>G
XR_001740005.1:n.7746C>G
XR_001740006.1:n.7720C>G
NM_000094.4:c.7710C>G MANE Select	NP_000085.1:p.Asp2570Glu