Canonical Allele Identifier: CA433533990

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48607762G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570329G>A , CM000665.2:g.48570329G>A	GRCh38
NC_000003.11:g.48607762G>A , CM000665.1:g.48607762G>A	GRCh37
NC_000003.10:g.48582766G>A	NCBI36
NG_007065.1:g.29924C>T , LRG_286:g.29924C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7386C>T MANE Select	ENSP00000506558.1:p.Asp2462=
ENST00000328333.12:c.7386C>T	ENSP00000332371.8:p.Asp2462=
ENST00000422991.1:c.381C>T	ENSP00000391608.1:p.Asp127=
ENST00000459756.5:n.113C>T
ENST00000467985.1:n.136C>T
ENST00000487017.5:n.4025C>T
NM_000094.3:c.7386C>T , LRG_286t1:c.7386C>T	NP_000085.1:p.Asp2462=
XM_011533336.1:c.7413C>T	XP_011531638.1:p.Asp2471=
XM_011533337.1:c.7386C>T	XP_011531639.1:p.Asp2462=
XM_011533338.1:c.7407+136C>T	XP_011531640.1:n.7407+136C>T
XM_011533339.1:c.7413C>T	XP_011531641.1:p.Asp2471=
XM_011533340.1:c.7408-77C>T	XP_011531642.1:n.7408-77C>T
XM_011533341.1:c.7382-77C>T	XP_011531643.1:n.7382-77C>T
XM_011533342.1:c.7381+136C>T	XP_011531644.1:n.7381+136C>T
XR_940369.1:n.7449C>T
XR_940370.1:n.7449C>T
XR_940371.1:n.7449C>T
XR_940372.1:n.7423C>T
XM_017005688.1:c.7380+136C>T	XP_016861177.1:n.7380+136C>T
XM_017005689.1:c.7386C>T	XP_016861178.1:p.Asp2462=
XM_017005690.1:c.7381-77C>T	XP_016861179.1:n.7381-77C>T
XM_017005691.1:c.7355-77C>T	XP_016861180.1:n.7355-77C>T
XM_017005692.1:c.7354+136C>T	XP_016861181.1:n.7354+136C>T
XR_001740003.1:n.7422C>T
XR_001740004.1:n.7422C>T
XR_001740005.1:n.7422C>T
XR_001740006.1:n.7396C>T
NM_000094.4:c.7386C>T MANE Select	NP_000085.1:p.Asp2462=