Canonical Allele Identifier: CA907756237

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2890295
• ClinVar RCV Id: RCV003720434
• dbSNP Id: rs1215121942
• gnomAD v3: 3-48566649-T-C
• gnomAD v4: 3-48566649-T-C
• MyVariant Identifiers: chr3:g.48604082T>C (hg19) ; chr3:g.48566649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566649T>C , CM000665.2:g.48566649T>C	GRCh38
NC_000003.11:g.48604082T>C , CM000665.1:g.48604082T>C	GRCh37
NC_000003.10:g.48579086T>C	NCBI36
NG_007065.1:g.33604A>G , LRG_286:g.33604A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8304+11A>G MANE Select	ENSP00000506558.1:n.8304+11A>G
ENST00000328333.12:c.8304+11A>G	ENSP00000332371.8:n.8304+11A>G
ENST00000474432.1:n.704+11A>G
ENST00000487017.5:n.4943+11A>G
NM_000094.3:c.8304+11A>G , LRG_286t1:c.8304+11A>G	NP_000085.1:n.8304+11A>G
XM_011533336.1:c.8331+11A>G	XP_011531638.1:n.8331+11A>G
XM_011533337.1:c.8304+11A>G	XP_011531639.1:n.8304+11A>G
XM_011533338.1:c.8271+11A>G	XP_011531640.1:n.8271+11A>G
XR_940369.1:n.8367+11A>G
XR_940370.1:n.8367+11A>G
XR_940371.1:n.8367+11A>G
XM_017005688.1:c.8244+11A>G	XP_016861177.1:n.8244+11A>G
XR_001740003.1:n.8340+11A>G
XR_001740004.1:n.8340+11A>G
XR_001740005.1:n.8340+11A>G
NM_000094.4:c.8304+11A>G MANE Select	NP_000085.1:n.8304+11A>G