Canonical Allele Identifier: CA73975244

Gene: COL7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570884G>A , CM000665.2:g.48570884G>A	GRCh38
NC_000003.11:g.48608317G>A , CM000665.1:g.48608317G>A	GRCh37
NC_000003.10:g.48583321G>A	NCBI36
NG_007065.1:g.29369C>T , LRG_286:g.29369C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000094.4:c.7249C>T MANE Select	NP_000085.1:p.Gln2417Ter
ENST00000681320.1:c.7249C>T MANE Select	ENSP00000506558.1:p.Gln2417Ter
NM_000094.3:c.7249C>T , LRG_286t1:c.7249C>T	NP_000085.1:p.Gln2417Ter
ENST00000328333.12:c.7249C>T	ENSP00000332371.8:p.Gln2417Ter
ENST00000422991.1:c.244C>T	ENSP00000391608.1:p.Gln82Ter
ENST00000487017.5:n.3888C>T
XM_011533336.1:c.7276C>T	XP_011531638.1:p.Gln2426Ter
XM_011533337.1:c.7249C>T	XP_011531639.1:p.Gln2417Ter
XM_011533338.1:c.7276C>T	XP_011531640.1:p.Gln2426Ter
XM_011533339.1:c.7276C>T	XP_011531641.1:p.Gln2426Ter
XM_011533340.1:c.7276C>T	XP_011531642.1:p.Gln2426Ter
XM_011533341.1:c.7273+3C>T	XP_011531643.1:n.7273+3C>T
XM_011533342.1:c.7273+3C>T	XP_011531644.1:n.7273+3C>T
XM_017005688.1:c.7249C>T	XP_016861177.1:p.Gln2417Ter
XM_017005689.1:c.7249C>T	XP_016861178.1:p.Gln2417Ter
XM_017005690.1:c.7249C>T	XP_016861179.1:p.Gln2417Ter
XM_017005691.1:c.7246+3C>T	XP_016861180.1:n.7246+3C>T
XM_017005692.1:c.7246+3C>T	XP_016861181.1:n.7246+3C>T
XR_001740003.1:n.7285C>T
XR_001740004.1:n.7285C>T
XR_001740005.1:n.7285C>T
XR_001740006.1:n.7282+3C>T
XR_940369.1:n.7312C>T
XR_940370.1:n.7312C>T
XR_940371.1:n.7312C>T
XR_940372.1:n.7309+3C>T