Canonical Allele Identifier: CA352645724

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570154-C-G
• MyVariant Identifiers: chr3:g.48607587C>G (hg19) ; chr3:g.48570154C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570154C>G , CM000665.2:g.48570154C>G	GRCh38
NC_000003.11:g.48607587C>G , CM000665.1:g.48607587C>G	GRCh37
NC_000003.10:g.48582591C>G	NCBI36
NG_007065.1:g.30099G>C , LRG_286:g.30099G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7465G>C MANE Select	ENSP00000506558.1:p.Glu2489Gln
ENST00000328333.12:c.7465G>C	ENSP00000332371.8:p.Glu2489Gln
ENST00000422991.1:c.460G>C	ENSP00000391608.1:p.Glu154Gln
ENST00000459756.5:n.288G>C
ENST00000467985.1:n.311G>C
ENST00000487017.5:n.4104G>C
NM_000094.3:c.7465G>C , LRG_286t1:c.7465G>C	NP_000085.1:p.Glu2489Gln
XM_011533336.1:c.7492G>C	XP_011531638.1:p.Glu2498Gln
XM_011533337.1:c.7465G>C	XP_011531639.1:p.Glu2489Gln
XM_011533338.1:c.7432G>C	XP_011531640.1:p.Glu2478Gln
XM_011533339.1:c.7492G>C	XP_011531641.1:p.Glu2498Gln
XM_011533342.1:c.*20G>C	XP_011531644.1:n.*20G>C
XR_940369.1:n.7528G>C
XR_940370.1:n.7528G>C
XR_940371.1:n.7528G>C
XR_940372.1:n.7502G>C
XM_017005688.1:c.7405G>C	XP_016861177.1:p.Glu2469Gln
XM_017005689.1:c.7465G>C	XP_016861178.1:p.Glu2489Gln
XM_017005692.1:c.*20G>C	XP_016861181.1:n.*20G>C
XR_001740003.1:n.7501G>C
XR_001740004.1:n.7501G>C
XR_001740005.1:n.7501G>C
XR_001740006.1:n.7475G>C
NM_000094.4:c.7465G>C MANE Select	NP_000085.1:p.Glu2489Gln