Canonical Allele Identifier: CA2665617145

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 2913952
• ClinVar RCV Id: RCV003735597
• gnomAD v4: 3-48566497-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48566497G>C , CM000665.2:g.48566497G>C	GRCh38
NC_000003.11:g.48603930G>C , CM000665.1:g.48603930G>C	GRCh37
NC_000003.10:g.48578934G>C	NCBI36
NG_007065.1:g.33756C>G , LRG_286:g.33756C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681320.1:c.8358+13C>G MANE Select	ENSP00000506558.1:n.8358+13C>G
ENST00000328333.12:c.8358+13C>G	ENSP00000332371.8:n.8358+13C>G
ENST00000487017.5:n.4997+13C>G
NM_000094.3:c.8358+13C>G , LRG_286t1:c.8358+13C>G	NP_000085.1:n.8358+13C>G
XM_011533336.1:c.8385+13C>G	XP_011531638.1:n.8385+13C>G
XM_011533337.1:c.8358+13C>G	XP_011531639.1:n.8358+13C>G
XM_011533338.1:c.8325+13C>G	XP_011531640.1:n.8325+13C>G
XR_940369.1:n.8421+13C>G
XR_940370.1:n.8421+13C>G
XR_940371.1:n.8421+13C>G
XM_017005688.1:c.8298+13C>G	XP_016861177.1:n.8298+13C>G
XR_001740003.1:n.8394+13C>G
XR_001740004.1:n.8394+13C>G
XR_001740005.1:n.8394+13C>G
NM_000094.4:c.8358+13C>G MANE Select	NP_000085.1:n.8358+13C>G