Canonical Allele Identifier: CA2379196

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 745682
• ClinVar RCV Id: RCV000922249 ; RCV001832082 ; RCV003960409
• dbSNP Id: rs200360245
• ExAC: 3:48612862 G / A
• gnomAD v2: 3-48612862-G-A
• gnomAD v3: 3-48575429-G-A
• gnomAD v4: 3-48575429-G-A
• MyVariant Identifiers: chr3:g.48612862G>A (hg19) ; chr3:g.48575429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48575429G>A , CM000665.2:g.48575429G>A	GRCh38
NC_000003.11:g.48612862G>A , CM000665.1:g.48612862G>A	GRCh37
NC_000003.10:g.48587866G>A	NCBI36
NG_007065.1:g.24824C>T , LRG_286:g.24824C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.6090C>T MANE Select	ENSP00000506558.1:p.Ser2030=
ENST00000328333.12:c.6090C>T	ENSP00000332371.8:p.Ser2030=
ENST00000487017.5:n.2007C>T
NM_000094.3:c.6090C>T , LRG_286t1:c.6090C>T	NP_000085.1:p.Ser2030=
XM_011533336.1:c.6117C>T	XP_011531638.1:p.Ser2039=
XM_011533337.1:c.6090C>T	XP_011531639.1:p.Ser2030=
XM_011533338.1:c.6117C>T	XP_011531640.1:p.Ser2039=
XM_011533339.1:c.6117C>T	XP_011531641.1:p.Ser2039=
XM_011533340.1:c.6117C>T	XP_011531642.1:p.Ser2039=
XM_011533341.1:c.6117C>T	XP_011531643.1:p.Ser2039=
XM_011533342.1:c.6117C>T	XP_011531644.1:p.Ser2039=
XR_940369.1:n.6153C>T
XR_940370.1:n.6153C>T
XR_940371.1:n.6153C>T
XR_940372.1:n.6153C>T
XR_940373.1:n.6153C>T
XR_940374.1:n.6153C>T
XR_940375.1:n.6153C>T
XM_017005688.1:c.6090C>T	XP_016861177.1:p.Ser2030=
XM_017005689.1:c.6090C>T	XP_016861178.1:p.Ser2030=
XM_017005690.1:c.6090C>T	XP_016861179.1:p.Ser2030=
XM_017005691.1:c.6090C>T	XP_016861180.1:p.Ser2030=
XM_017005692.1:c.6090C>T	XP_016861181.1:p.Ser2030=
XR_001740003.1:n.6126C>T
XR_001740004.1:n.6126C>T
XR_001740005.1:n.6126C>T
XR_001740006.1:n.6126C>T
XR_001740007.1:n.6126C>T
XR_001740008.1:n.6126C>T
XR_001740009.1:n.6126C>T
NM_000094.4:c.6090C>T MANE Select	NP_000085.1:p.Ser2030=