Canonical Allele Identifier: CA352643397

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 1390635
• ClinVar RCV Id: RCV001889597
• dbSNP Id: rs2107639863
• gnomAD v4: 3-48568852-T-C
• MyVariant Identifiers: chr3:g.48606285T>C (hg19) ; chr3:g.48568852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568852T>C , CM000665.2:g.48568852T>C	GRCh38
NC_000003.11:g.48606285T>C , CM000665.1:g.48606285T>C	GRCh37
NC_000003.10:g.48581289T>C	NCBI36
NG_007065.1:g.31401A>G , LRG_286:g.31401A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7690A>G MANE Select	ENSP00000506558.1:p.Ser2564Gly
ENST00000328333.12:c.7690A>G	ENSP00000332371.8:p.Ser2564Gly
ENST00000459756.5:n.513A>G
ENST00000467985.1:n.536A>G
ENST00000487017.5:n.4329A>G
NM_000094.3:c.7690A>G , LRG_286t1:c.7690A>G	NP_000085.1:p.Ser2564Gly
XM_011533336.1:c.7717A>G	XP_011531638.1:p.Ser2573Gly
XM_011533337.1:c.7690A>G	XP_011531639.1:p.Ser2564Gly
XM_011533338.1:c.7657A>G	XP_011531640.1:p.Ser2553Gly
XM_011533339.1:c.7717A>G	XP_011531641.1:p.Ser2573Gly
XR_940369.1:n.7753A>G
XR_940370.1:n.7753A>G
XR_940371.1:n.7753A>G
XR_940372.1:n.7727A>G
XM_017005688.1:c.7630A>G	XP_016861177.1:p.Ser2544Gly
XM_017005689.1:c.7690A>G	XP_016861178.1:p.Ser2564Gly
XR_001740003.1:n.7726A>G
XR_001740004.1:n.7726A>G
XR_001740005.1:n.7726A>G
XR_001740006.1:n.7700A>G
NM_000094.4:c.7690A>G MANE Select	NP_000085.1:p.Ser2564Gly