Canonical Allele Identifier: CA352642958

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48606240G>C (hg19) ; chr3:g.48568807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568807G>C , CM000665.2:g.48568807G>C	GRCh38
NC_000003.11:g.48606240G>C , CM000665.1:g.48606240G>C	GRCh37
NC_000003.10:g.48581244G>C	NCBI36
NG_007065.1:g.31446C>G , LRG_286:g.31446C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7735C>G MANE Select	ENSP00000506558.1:p.Leu2579Val
ENST00000328333.12:c.7735C>G	ENSP00000332371.8:p.Leu2579Val
ENST00000459756.5:n.558C>G
ENST00000467985.1:n.581C>G
ENST00000487017.5:n.4374C>G
NM_000094.3:c.7735C>G , LRG_286t1:c.7735C>G	NP_000085.1:p.Leu2579Val
XM_011533336.1:c.7762C>G	XP_011531638.1:p.Leu2588Val
XM_011533337.1:c.7735C>G	XP_011531639.1:p.Leu2579Val
XM_011533338.1:c.7702C>G	XP_011531640.1:p.Leu2568Val
XM_011533339.1:c.7762C>G	XP_011531641.1:p.Leu2588Val
XR_940369.1:n.7798C>G
XR_940370.1:n.7798C>G
XR_940371.1:n.7798C>G
XR_940372.1:n.7772C>G
XM_017005688.1:c.7675C>G	XP_016861177.1:p.Leu2559Val
XM_017005689.1:c.7735C>G	XP_016861178.1:p.Leu2579Val
XR_001740003.1:n.7771C>G
XR_001740004.1:n.7771C>G
XR_001740005.1:n.7771C>G
XR_001740006.1:n.7745C>G
NM_000094.4:c.7735C>G MANE Select	NP_000085.1:p.Leu2579Val