Canonical Allele Identifier: CA10616846

Gene: COL7A1

Linked Data

• ClinVar Variation Id: 345790
• ClinVar RCV Id: RCV000403824
• dbSNP Id: rs886058628
• MyVariant Identifiers: chr3:g.48602403G>T (hg19) ; chr3:g.48564970G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48564970G>T , CM000665.2:g.48564970G>T	GRCh38
NC_000003.11:g.48602403G>T , CM000665.1:g.48602403G>T	GRCh37
NC_000003.10:g.48577407G>T	NCBI36
NG_007065.1:g.35283C>A , LRG_286:g.35283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8631C>A MANE Select	ENSP00000506558.1:p.Ser2877=
ENST00000328333.12:c.8631C>A	ENSP00000332371.8:p.Ser2877=
ENST00000465238.5:n.50C>A
ENST00000466591.1:n.242C>A
ENST00000470076.1:n.23C>A
ENST00000487017.5:n.5270C>A
NM_000094.3:c.8631C>A , LRG_286t1:c.8631C>A	NP_000085.1:p.Ser2877=
XM_011533336.1:c.8658C>A	XP_011531638.1:p.Ser2886=
XM_011533337.1:c.8631C>A	XP_011531639.1:p.Ser2877=
XM_011533338.1:c.8598C>A	XP_011531640.1:p.Ser2866=
XR_940369.1:n.8767C>A
XR_940370.1:n.8731C>A
XR_940371.1:n.8728C>A
XM_017005688.1:c.8571C>A	XP_016861177.1:p.Ser2857=
XR_001740003.1:n.8740C>A
XR_001740004.1:n.8704C>A
XR_001740005.1:n.8701C>A
NM_000094.4:c.8631C>A MANE Select	NP_000085.1:p.Ser2877=