Canonical Allele Identifier: CA352645892

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48570175-C-G
• MyVariant Identifiers: chr3:g.48607608C>G (hg19) ; chr3:g.48570175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570175C>G , CM000665.2:g.48570175C>G	GRCh38
NC_000003.11:g.48607608C>G , CM000665.1:g.48607608C>G	GRCh37
NC_000003.10:g.48582612C>G	NCBI36
NG_007065.1:g.30078G>C , LRG_286:g.30078G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7444G>C MANE Select	ENSP00000506558.1:p.Glu2482Gln
ENST00000328333.12:c.7444G>C	ENSP00000332371.8:p.Glu2482Gln
ENST00000422991.1:c.439G>C	ENSP00000391608.1:p.Glu147Gln
ENST00000459756.5:n.267G>C
ENST00000467985.1:n.290G>C
ENST00000487017.5:n.4083G>C
NM_000094.3:c.7444G>C , LRG_286t1:c.7444G>C	NP_000085.1:p.Glu2482Gln
XM_011533336.1:c.7471G>C	XP_011531638.1:p.Glu2491Gln
XM_011533337.1:c.7444G>C	XP_011531639.1:p.Glu2482Gln
XM_011533338.1:c.7411G>C	XP_011531640.1:p.Glu2471Gln
XM_011533339.1:c.7471G>C	XP_011531641.1:p.Glu2491Gln
XM_011533340.1:c.*45G>C	XP_011531642.1:n.*45G>C
XM_011533341.1:c.*31G>C	XP_011531643.1:n.*31G>C
XM_011533342.1:c.7385G>C	XP_011531644.1:p.Ter2462Ser
XR_940369.1:n.7507G>C
XR_940370.1:n.7507G>C
XR_940371.1:n.7507G>C
XR_940372.1:n.7481G>C
XM_017005688.1:c.7384G>C	XP_016861177.1:p.Glu2462Gln
XM_017005689.1:c.7444G>C	XP_016861178.1:p.Glu2482Gln
XM_017005690.1:c.*45G>C	XP_016861179.1:n.*45G>C
XM_017005691.1:c.*31G>C	XP_016861180.1:n.*31G>C
XM_017005692.1:c.7358G>C	XP_016861181.1:p.Ter2453Ser
XR_001740003.1:n.7480G>C
XR_001740004.1:n.7480G>C
XR_001740005.1:n.7480G>C
XR_001740006.1:n.7454G>C
NM_000094.4:c.7444G>C MANE Select	NP_000085.1:p.Glu2482Gln