Canonical Allele Identifier: CA542788271

Gene: COL7A1

Linked Data

• dbSNP Id: rs1206306333
• gnomAD v2: 3-48605984-T-G
• gnomAD v4: 3-48568551-T-G
• MyVariant Identifiers: chr3:g.48605984T>G (hg19) ; chr3:g.48568551T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568551T>G , CM000665.2:g.48568551T>G	GRCh38
NC_000003.11:g.48605984T>G , CM000665.1:g.48605984T>G	GRCh37
NC_000003.10:g.48580988T>G	NCBI36
NG_007065.1:g.31702A>C , LRG_286:g.31702A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7759-17A>C MANE Select	ENSP00000506558.1:n.7759-17A>C
ENST00000328333.12:c.7759-17A>C	ENSP00000332371.8:n.7759-17A>C
ENST00000459756.5:n.582-17A>C
ENST00000467985.1:n.605-17A>C
ENST00000487017.5:n.4398-17A>C
NM_000094.3:c.7759-17A>C , LRG_286t1:c.7759-17A>C	NP_000085.1:n.7759-17A>C
XM_011533336.1:c.7786-17A>C	XP_011531638.1:n.7786-17A>C
XM_011533337.1:c.7759-17A>C	XP_011531639.1:n.7759-17A>C
XM_011533338.1:c.7726-17A>C	XP_011531640.1:n.7726-17A>C
XM_011533339.1:c.7786-17A>C	XP_011531641.1:n.7786-17A>C
XR_940369.1:n.7822-17A>C
XR_940370.1:n.7822-17A>C
XR_940371.1:n.7822-17A>C
XR_940372.1:n.7796-17A>C
XM_017005688.1:c.7699-17A>C	XP_016861177.1:n.7699-17A>C
XM_017005689.1:c.7759-17A>C	XP_016861178.1:n.7759-17A>C
XR_001740003.1:n.7795-17A>C
XR_001740004.1:n.7795-17A>C
XR_001740005.1:n.7795-17A>C
XR_001740006.1:n.7769-17A>C
NM_000094.4:c.7759-17A>C MANE Select	NP_000085.1:n.7759-17A>C