Canonical Allele Identifier: CA257960
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17458
dbSNP Id: rs121912851
gnomAD v2: 3-48605169-C-T
gnomAD v3: 3-48567736-C-T
gnomAD v4: 3-48567736-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567736C>T , CM000665.2:g.48567736C>T GRCh38
NC_000003.11:g.48605169C>T , CM000665.1:g.48605169C>T GRCh37
NC_000003.10:g.48580173C>T NCBI36
NG_007065.1:g.32517G>A , LRG_286:g.32517G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.7957G>A MANE Select ENSP00000506558.1:p.Gly2653Arg
ENST00000328333.12:c.7957G>A ENSP00000332371.8:p.Gly2653Arg
ENST00000459756.5:n.780G>A
ENST00000487017.5:n.4596G>A
NM_000094.3:c.7957G>A , LRG_286t1:c.7957G>A NP_000085.1:p.Gly2653Arg
XM_011533336.1:c.7984G>A XP_011531638.1:p.Gly2662Arg
XM_011533337.1:c.7957G>A XP_011531639.1:p.Gly2653Arg
XM_011533338.1:c.7924G>A XP_011531640.1:p.Gly2642Arg
XR_940369.1:n.8020G>A
XR_940370.1:n.8020G>A
XR_940371.1:n.8020G>A
XM_017005688.1:c.7897G>A XP_016861177.1:p.Gly2633Arg
XR_001740003.1:n.7993G>A
XR_001740004.1:n.7993G>A
XR_001740005.1:n.7993G>A
NM_000094.4:c.7957G>A MANE Select NP_000085.1:p.Gly2653Arg