Canonical Allele Identifier: CA352641069

Gene: COL7A1

Linked Data

• MyVariant Identifiers: chr3:g.48605033C>A (hg19) ; chr3:g.48567600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567600C>A , CM000665.2:g.48567600C>A	GRCh38
NC_000003.11:g.48605033C>A , CM000665.1:g.48605033C>A	GRCh37
NC_000003.10:g.48580037C>A	NCBI36
NG_007065.1:g.32653G>T , LRG_286:g.32653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.8020G>T MANE Select	ENSP00000506558.1:p.Gly2674Cys
ENST00000328333.12:c.8020G>T	ENSP00000332371.8:p.Gly2674Cys
ENST00000487017.5:n.4659G>T
NM_000094.3:c.8020G>T , LRG_286t1:c.8020G>T	NP_000085.1:p.Gly2674Cys
XM_011533336.1:c.8047G>T	XP_011531638.1:p.Gly2683Cys
XM_011533337.1:c.8020G>T	XP_011531639.1:p.Gly2674Cys
XM_011533338.1:c.7987G>T	XP_011531640.1:p.Gly2663Cys
XR_940369.1:n.8083G>T
XR_940370.1:n.8083G>T
XR_940371.1:n.8083G>T
XM_017005688.1:c.7960G>T	XP_016861177.1:p.Gly2654Cys
XR_001740003.1:n.8056G>T
XR_001740004.1:n.8056G>T
XR_001740005.1:n.8056G>T
NM_000094.4:c.8020G>T MANE Select	NP_000085.1:p.Gly2674Cys