Canonical Allele Identifier: CA352665478

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2203369
• ClinVar RCV Id: RCV002651686 ; RCV003388635
• dbSNP Id: rs1340588200
• gnomAD v2: 3-48613168-C-T
• gnomAD v3: 3-48575735-C-T
• gnomAD v4: 3-48575735-C-T
• MyVariant Identifiers: chr3:g.48613168C>T (hg19) ; chr3:g.48575735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575735C>T , CM000665.2:g.48575735C>T	GRCh38
NC_000003.11:g.48613168C>T , CM000665.1:g.48613168C>T	GRCh37
NC_000003.10:g.48588172C>T	NCBI36
NG_007065.1:g.24518G>A , LRG_286:g.24518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.5870G>A MANE Select	ENSP00000506558.1:p.Arg1957Gln
ENST00000328333.12:c.5870G>A	ENSP00000332371.8:p.Arg1957Gln
ENST00000487017.5:n.1787G>A
NM_000094.3:c.5870G>A , LRG_286t1:c.5870G>A	NP_000085.1:p.Arg1957Gln
XM_011533336.1:c.5897G>A	XP_011531638.1:p.Arg1966Gln
XM_011533337.1:c.5870G>A	XP_011531639.1:p.Arg1957Gln
XM_011533338.1:c.5897G>A	XP_011531640.1:p.Arg1966Gln
XM_011533339.1:c.5897G>A	XP_011531641.1:p.Arg1966Gln
XM_011533340.1:c.5897G>A	XP_011531642.1:p.Arg1966Gln
XM_011533341.1:c.5897G>A	XP_011531643.1:p.Arg1966Gln
XM_011533342.1:c.5897G>A	XP_011531644.1:p.Arg1966Gln
XR_940369.1:n.5933G>A
XR_940370.1:n.5933G>A
XR_940371.1:n.5933G>A
XR_940372.1:n.5933G>A
XR_940373.1:n.5933G>A
XR_940374.1:n.5933G>A
XR_940375.1:n.5933G>A
XM_017005688.1:c.5870G>A	XP_016861177.1:p.Arg1957Gln
XM_017005689.1:c.5870G>A	XP_016861178.1:p.Arg1957Gln
XM_017005690.1:c.5870G>A	XP_016861179.1:p.Arg1957Gln
XM_017005691.1:c.5870G>A	XP_016861180.1:p.Arg1957Gln
XM_017005692.1:c.5870G>A	XP_016861181.1:p.Arg1957Gln
XR_001740003.1:n.5906G>A
XR_001740004.1:n.5906G>A
XR_001740005.1:n.5906G>A
XR_001740006.1:n.5906G>A
XR_001740007.1:n.5906G>A
XR_001740008.1:n.5906G>A
XR_001740009.1:n.5906G>A
NM_000094.4:c.5870G>A MANE Select	NP_000085.1:p.Arg1957Gln