Canonical Allele Identifier: CA352641857

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605545A>C (hg19) ; chr3:g.48568112A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48568112A>C , CM000665.2:g.48568112A>C	GRCh38
NC_000003.11:g.48605545A>C , CM000665.1:g.48605545A>C	GRCh37
NC_000003.10:g.48580549A>C	NCBI36
NG_007065.1:g.32141T>G , LRG_286:g.32141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7853T>G MANE Select	ENSP00000506558.1:p.Phe2618Cys
ENST00000328333.12:c.7853T>G	ENSP00000332371.8:p.Phe2618Cys
ENST00000459756.5:n.676T>G
ENST00000487017.5:n.4492T>G
NM_000094.3:c.7853T>G , LRG_286t1:c.7853T>G	NP_000085.1:p.Phe2618Cys
XM_011533336.1:c.7880T>G	XP_011531638.1:p.Phe2627Cys
XM_011533337.1:c.7853T>G	XP_011531639.1:p.Phe2618Cys
XM_011533338.1:c.7820T>G	XP_011531640.1:p.Phe2607Cys
XR_940369.1:n.7916T>G
XR_940370.1:n.7916T>G
XR_940371.1:n.7916T>G
XM_017005688.1:c.7793T>G	XP_016861177.1:p.Phe2598Cys
XR_001740003.1:n.7889T>G
XR_001740004.1:n.7889T>G
XR_001740005.1:n.7889T>G
NM_000094.4:c.7853T>G MANE Select	NP_000085.1:p.Phe2618Cys