Canonical Allele Identifier: CA352641069
Gene: COL7A1 HGNC NCBI

Linked Data

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