Canonical Allele Identifier: CA352646249

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607734C>A (hg19) ; chr3:g.48570301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570301C>A , CM000665.2:g.48570301C>A	GRCh38
NC_000003.11:g.48607734C>A , CM000665.1:g.48607734C>A	GRCh37
NC_000003.10:g.48582738C>A	NCBI36
NG_007065.1:g.29952G>T , LRG_286:g.29952G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7414G>T MANE Select	ENSP00000506558.1:p.Gly2472Cys
ENST00000328333.12:c.7414G>T	ENSP00000332371.8:p.Gly2472Cys
ENST00000422991.1:c.409G>T	ENSP00000391608.1:p.Gly137Cys
ENST00000459756.5:n.141G>T
ENST00000467985.1:n.164G>T
ENST00000487017.5:n.4053G>T
NM_000094.3:c.7414G>T , LRG_286t1:c.7414G>T	NP_000085.1:p.Gly2472Cys
XM_011533336.1:c.7441G>T	XP_011531638.1:p.Gly2481Cys
XM_011533337.1:c.7414G>T	XP_011531639.1:p.Gly2472Cys
XM_011533338.1:c.7408-123G>T	XP_011531640.1:n.7408-123G>T
XM_011533339.1:c.7441G>T	XP_011531641.1:p.Gly2481Cys
XM_011533340.1:c.7408-49G>T	XP_011531642.1:n.7408-49G>T
XM_011533341.1:c.7382-49G>T	XP_011531643.1:n.7382-49G>T
XM_011533342.1:c.7382-123G>T	XP_011531644.1:n.7382-123G>T
XR_940369.1:n.7477G>T
XR_940370.1:n.7477G>T
XR_940371.1:n.7477G>T
XR_940372.1:n.7451G>T
XM_017005688.1:c.7381-123G>T	XP_016861177.1:n.7381-123G>T
XM_017005689.1:c.7414G>T	XP_016861178.1:p.Gly2472Cys
XM_017005690.1:c.7381-49G>T	XP_016861179.1:n.7381-49G>T
XM_017005691.1:c.7355-49G>T	XP_016861180.1:n.7355-49G>T
XM_017005692.1:c.7355-123G>T	XP_016861181.1:n.7355-123G>T
XR_001740003.1:n.7450G>T
XR_001740004.1:n.7450G>T
XR_001740005.1:n.7450G>T
XR_001740006.1:n.7424G>T
NM_000094.4:c.7414G>T MANE Select	NP_000085.1:p.Gly2472Cys