Canonical Allele Identifier: CA16621527
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424628
ClinVar RCV Id: RCV000487447 RCV002506182
dbSNP Id: rs1064797081
gnomAD v4: 3-48566686-C-T
MyVariant Identifiers: chr3:g.48604119C>T (hg19) chr3:g.48566686C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48566686C>T , CM000665.2:g.48566686C>T GRCh38
NC_000003.11:g.48604119C>T , CM000665.1:g.48604119C>T GRCh37
NC_000003.10:g.48579123C>T NCBI36
NG_007065.1:g.33567G>A , LRG_286:g.33567G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.8278G>A MANE Select ENSP00000506558.1:p.Gly2760Arg
ENST00000328333.12:c.8278G>A ENSP00000332371.8:p.Gly2760Arg
ENST00000474432.1:n.678G>A
ENST00000487017.5:n.4917G>A
NM_000094.3:c.8278G>A , LRG_286t1:c.8278G>A NP_000085.1:p.Gly2760Arg
XM_011533336.1:c.8305G>A XP_011531638.1:p.Gly2769Arg
XM_011533337.1:c.8278G>A XP_011531639.1:p.Gly2760Arg
XM_011533338.1:c.8245G>A XP_011531640.1:p.Gly2749Arg
XR_940369.1:n.8341G>A
XR_940370.1:n.8341G>A
XR_940371.1:n.8341G>A
XM_017005688.1:c.8218G>A XP_016861177.1:p.Gly2740Arg
XR_001740003.1:n.8314G>A
XR_001740004.1:n.8314G>A
XR_001740005.1:n.8314G>A
NM_000094.4:c.8278G>A MANE Select NP_000085.1:p.Gly2760Arg
Search 100 bp 5'
Search 100 bp 3'