Canonical Allele Identifier: CA16604943
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379696
ClinVar RCV Id: RCV000422881
dbSNP Id: rs1057520693
MyVariant Identifiers: chr3:g.48604568C>A (hg19) chr3:g.48567135C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.48567135C>A , CM000665.2:g.48567135C>A GRCh38
NC_000003.11:g.48604568C>A , CM000665.1:g.48604568C>A GRCh37
NC_000003.10:g.48579572C>A NCBI36
NG_007065.1:g.33118G>T , LRG_286:g.33118G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681320.1:c.8102G>T MANE Select ENSP00000506558.1:p.Gly2701Val
ENST00000328333.12:c.8102G>T ENSP00000332371.8:p.Gly2701Val
ENST00000474432.1:n.229G>T
ENST00000487017.5:n.4741G>T
NM_000094.3:c.8102G>T , LRG_286t1:c.8102G>T NP_000085.1:p.Gly2701Val
XM_011533336.1:c.8129G>T XP_011531638.1:p.Gly2710Val
XM_011533337.1:c.8102G>T XP_011531639.1:p.Gly2701Val
XM_011533338.1:c.8069G>T XP_011531640.1:p.Gly2690Val
XR_940369.1:n.8165G>T
XR_940370.1:n.8165G>T
XR_940371.1:n.8165G>T
XM_017005688.1:c.8042G>T XP_016861177.1:p.Gly2681Val
XR_001740003.1:n.8138G>T
XR_001740004.1:n.8138G>T
XR_001740005.1:n.8138G>T
NM_000094.4:c.8102G>T MANE Select NP_000085.1:p.Gly2701Val
Search 100 bp 5'
Search 100 bp 3'