Canonical Allele Identifier: CA347386
Gene: ATR HGNC NCBI

Linked Data

ClinVar Variation Id: 210488
ClinVar RCV Id: RCV000193414
dbSNP Id: rs797045403

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142513500C>A , CM000665.2:g.142513500C>A GRCh38
NC_000003.11:g.142232342C>A , CM000665.1:g.142232342C>A GRCh37
NC_000003.10:g.143715032C>A NCBI36
NG_008951.1:g.70327G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000350721.9:c.4641+1G>T MANE Select ENSP00000343741.4:n.4641+1G>T
ENST00000653868.1:n.4670+1G>T
ENST00000656590.1:c.3431+1G>T
ENST00000661310.1:c.4449+1G>T ENSP00000499589.1:n.4449+1G>T
ENST00000666943.1:n.105+1G>T
ENST00000350721.8:c.4641+1G>T ENSP00000343741.4:n.4641+1G>T
NM_001184.3:c.4641+1G>T NP_001175.2:n.4641+1G>T
XM_011512924.1:c.4647+1G>T XP_011511226.1:n.4647+1G>T
XM_011512925.1:c.4455+1G>T XP_011511227.1:n.4455+1G>T
XM_011512926.1:c.4647+1G>T XP_011511228.1:n.4647+1G>T
XM_011512927.1:c.4647+1G>T XP_011511229.1:n.4647+1G>T
XR_924147.1:n.4736+1G>T
XR_924148.1:n.4736+1G>T
XR_924149.1:n.4736+1G>T
NM_001354579.1:c.4449+1G>T NP_001341508.1:n.4449+1G>T
XR_001740179.2:n.4730+1G>T
XR_001740180.2:n.4736+1G>T
XR_001740181.2:n.4736+1G>T
XR_001740182.1:n.4736+1G>T
XR_002959543.1:n.4736+1G>T
XR_924148.2:n.4736+1G>T
NM_001184.4:c.4641+1G>T MANE Select NP_001175.2:n.4641+1G>T
NM_001354579.2:c.4449+1G>T NP_001341508.1:n.4449+1G>T