Canonical Allele Identifier: CA352645889

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607608C>A (hg19) ; chr3:g.48570175C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7444G>T MANE Select	ENSP00000506558.1:p.Glu2482Ter
ENST00000328333.12:c.7444G>T	ENSP00000332371.8:p.Glu2482Ter
ENST00000422991.1:c.439G>T	ENSP00000391608.1:p.Glu147Ter
ENST00000459756.5:n.267G>T
ENST00000467985.1:n.290G>T
ENST00000487017.5:n.4083G>T
NM_000094.3:c.7444G>T , LRG_286t1:c.7444G>T	NP_000085.1:p.Glu2482Ter
XM_011533336.1:c.7471G>T	XP_011531638.1:p.Glu2491Ter
XM_011533337.1:c.7444G>T	XP_011531639.1:p.Glu2482Ter
XM_011533338.1:c.7411G>T	XP_011531640.1:p.Glu2471Ter
XM_011533339.1:c.7471G>T	XP_011531641.1:p.Glu2491Ter
XM_011533340.1:c.*45G>T	XP_011531642.1:n.*45G>T
XM_011533341.1:c.*31G>T	XP_011531643.1:n.*31G>T
XM_011533342.1:c.7385G>T	XP_011531644.1:p.Ter2462Leu
XR_940369.1:n.7507G>T
XR_940370.1:n.7507G>T
XR_940371.1:n.7507G>T
XR_940372.1:n.7481G>T
XM_017005688.1:c.7384G>T	XP_016861177.1:p.Glu2462Ter
XM_017005689.1:c.7444G>T	XP_016861178.1:p.Glu2482Ter
XM_017005690.1:c.*45G>T	XP_016861179.1:n.*45G>T
XM_017005691.1:c.*31G>T	XP_016861180.1:n.*31G>T
XM_017005692.1:c.7358G>T	XP_016861181.1:p.Ter2453Leu
XR_001740003.1:n.7480G>T
XR_001740004.1:n.7480G>T
XR_001740005.1:n.7480G>T
XR_001740006.1:n.7454G>T
NM_000094.4:c.7444G>T MANE Select	NP_000085.1:p.Glu2482Ter