Canonical Allele Identifier: CA2378325

Gene: COL7A1

Linked Data

• dbSNP Id: rs778750758
• ExAC: 3:48605989 G / C
• gnomAD v2: 3-48605989-G-C
• gnomAD v3: 3-48568556-G-C
• gnomAD v4: 3-48568556-G-C
• MyVariant Identifiers: chr3:g.48605989G>C (hg19) ; chr3:g.48568556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568556G>C , CM000665.2:g.48568556G>C	GRCh38
NC_000003.11:g.48605989G>C , CM000665.1:g.48605989G>C	GRCh37
NC_000003.10:g.48580993G>C	NCBI36
NG_007065.1:g.31697C>G , LRG_286:g.31697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-22C>G MANE Select	ENSP00000506558.1:n.7759-22C>G
ENST00000328333.12:c.7759-22C>G	ENSP00000332371.8:n.7759-22C>G
ENST00000459756.5:n.582-22C>G
ENST00000467985.1:n.605-22C>G
ENST00000487017.5:n.4398-22C>G
NM_000094.3:c.7759-22C>G , LRG_286t1:c.7759-22C>G	NP_000085.1:n.7759-22C>G
XM_011533336.1:c.7786-22C>G	XP_011531638.1:n.7786-22C>G
XM_011533337.1:c.7759-22C>G	XP_011531639.1:n.7759-22C>G
XM_011533338.1:c.7726-22C>G	XP_011531640.1:n.7726-22C>G
XM_011533339.1:c.7786-22C>G	XP_011531641.1:n.7786-22C>G
XR_940369.1:n.7822-22C>G
XR_940370.1:n.7822-22C>G
XR_940371.1:n.7822-22C>G
XR_940372.1:n.7796-22C>G
XM_017005688.1:c.7699-22C>G	XP_016861177.1:n.7699-22C>G
XM_017005689.1:c.7759-22C>G	XP_016861178.1:n.7759-22C>G
XR_001740003.1:n.7795-22C>G
XR_001740004.1:n.7795-22C>G
XR_001740005.1:n.7795-22C>G
XR_001740006.1:n.7769-22C>G
NM_000094.4:c.7759-22C>G MANE Select	NP_000085.1:n.7759-22C>G