Canonical Allele Identifier: CA433533945

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2781988
• ClinVar RCV Id: RCV003662187
• dbSNP Id: rs113508522
• gnomAD v2: 3-48607710-G-T
• MyVariant Identifiers: chr3:g.48607710G>T (hg19) ; chr3:g.48570277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48570277G>T , CM000665.2:g.48570277G>T	GRCh38
NC_000003.11:g.48607710G>T , CM000665.1:g.48607710G>T	GRCh37
NC_000003.10:g.48582714G>T	NCBI36
NG_007065.1:g.29976C>A , LRG_286:g.29976C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.7438C>A MANE Select	ENSP00000506558.1:p.Arg2480=
ENST00000328333.12:c.7438C>A	ENSP00000332371.8:p.Arg2480=
ENST00000422991.1:c.433C>A	ENSP00000391608.1:p.Arg145=
ENST00000459756.5:n.165C>A
ENST00000467985.1:n.188C>A
ENST00000487017.5:n.4077C>A
NM_000094.3:c.7438C>A , LRG_286t1:c.7438C>A	NP_000085.1:p.Arg2480=
XM_011533336.1:c.7465C>A	XP_011531638.1:p.Arg2489=
XM_011533337.1:c.7438C>A	XP_011531639.1:p.Arg2480=
XM_011533338.1:c.7408-99C>A	XP_011531640.1:n.7408-99C>A
XM_011533339.1:c.7465C>A	XP_011531641.1:p.Arg2489=
XM_011533340.1:c.7408-25C>A	XP_011531642.1:n.7408-25C>A
XM_011533341.1:c.7382-25C>A	XP_011531643.1:n.7382-25C>A
XM_011533342.1:c.7382-99C>A	XP_011531644.1:n.7382-99C>A
XR_940369.1:n.7501C>A
XR_940370.1:n.7501C>A
XR_940371.1:n.7501C>A
XR_940372.1:n.7475C>A
XM_017005688.1:c.7381-99C>A	XP_016861177.1:n.7381-99C>A
XM_017005689.1:c.7438C>A	XP_016861178.1:p.Arg2480=
XM_017005690.1:c.7381-25C>A	XP_016861179.1:n.7381-25C>A
XM_017005691.1:c.7355-25C>A	XP_016861180.1:n.7355-25C>A
XM_017005692.1:c.7355-99C>A	XP_016861181.1:n.7355-99C>A
XR_001740003.1:n.7474C>A
XR_001740004.1:n.7474C>A
XR_001740005.1:n.7474C>A
XR_001740006.1:n.7448C>A
NM_000094.4:c.7438C>A MANE Select	NP_000085.1:p.Arg2480=