Canonical Allele Identifier: CA2378787

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1077474
• ClinVar RCV Id: RCV001392052
• dbSNP Id: rs752128750
• ExAC: 3:48609954 A / C
• gnomAD v2: 3-48609954-A-C
• gnomAD v4: 3-48572521-A-C
• MyVariant Identifiers: chr3:g.48609954A>C (hg19) ; chr3:g.48572521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48572521A>C , CM000665.2:g.48572521A>C	GRCh38
NC_000003.11:g.48609954A>C , CM000665.1:g.48609954A>C	GRCh37
NC_000003.10:g.48584958A>C	NCBI36
NG_007065.1:g.27732T>G , LRG_286:g.27732T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.6918T>G MANE Select	ENSP00000506558.1:p.Pro2306=
ENST00000328333.12:c.6918T>G	ENSP00000332371.8:p.Pro2306=
ENST00000487017.5:n.2835T>G
NM_000094.3:c.6918T>G , LRG_286t1:c.6918T>G	NP_000085.1:p.Pro2306=
XM_011533336.1:c.6945T>G	XP_011531638.1:p.Pro2315=
XM_011533337.1:c.6918T>G	XP_011531639.1:p.Pro2306=
XM_011533338.1:c.6945T>G	XP_011531640.1:p.Pro2315=
XM_011533339.1:c.6945T>G	XP_011531641.1:p.Pro2315=
XM_011533340.1:c.6945T>G	XP_011531642.1:p.Pro2315=
XM_011533341.1:c.6945T>G	XP_011531643.1:p.Pro2315=
XM_011533342.1:c.6945T>G	XP_011531644.1:p.Pro2315=
XR_940369.1:n.6981T>G
XR_940370.1:n.6981T>G
XR_940371.1:n.6981T>G
XR_940372.1:n.6981T>G
XR_940373.1:n.6981T>G
XR_940374.1:n.6991T>G
XM_017005688.1:c.6918T>G	XP_016861177.1:p.Pro2306=
XM_017005689.1:c.6918T>G	XP_016861178.1:p.Pro2306=
XM_017005690.1:c.6918T>G	XP_016861179.1:p.Pro2306=
XM_017005691.1:c.6918T>G	XP_016861180.1:p.Pro2306=
XM_017005692.1:c.6918T>G	XP_016861181.1:p.Pro2306=
XR_001740003.1:n.6954T>G
XR_001740004.1:n.6954T>G
XR_001740005.1:n.6954T>G
XR_001740006.1:n.6954T>G
XR_001740007.1:n.6954T>G
XR_001740008.1:n.6964T>G
NM_000094.4:c.6918T>G MANE Select	NP_000085.1:p.Pro2306=