Canonical Allele Identifier: CA354793954

Gene: ATR

Linked Data

• ClinVar Variation Id: 1468066
• ClinVar RCV Id: RCV001968808 ; RCV002407213 ; RCV003126051 ; RCV003126052
• dbSNP Id: rs1227410272
• gnomAD v2: 3-142168426-C-G
• gnomAD v4: 3-142449584-C-G
• MyVariant Identifiers: chr3:g.142168426C>G (hg19) ; chr3:g.142449584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449584C>G , CM000665.2:g.142449584C>G	GRCh38
NC_000003.11:g.142168426C>G , CM000665.1:g.142168426C>G	GRCh37
NC_000003.10:g.143651116C>G	NCBI36
NG_008951.1:g.134243G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7780G>C MANE Select	ENSP00000343741.4:p.Asp2594His
ENST00000513291.2:n.6489G>C
ENST00000653893.1:n.2638G>C
ENST00000654170.1:n.2623G>C
ENST00000656114.1:n.2866G>C
ENST00000656590.1:c.6707G>C
ENST00000658083.1:n.2960G>C
ENST00000661310.1:c.7588G>C	ENSP00000499589.1:p.Asp2530His
ENST00000665483.1:n.5320G>C
ENST00000666447.1:n.4283G>C
ENST00000666943.1:n.4512G>C
ENST00000350721.8:c.7780G>C	ENSP00000343741.4:p.Asp2594His
ENST00000504521.5:c.369G>C	ENSP00000422553.1:n.369G>C
ENST00000513291.1:c.4844G>C
ENST00000515810.1:c.206G>C	ENSP00000421870.1:n.206G>C
NM_001184.3:c.7780G>C	NP_001175.2:p.Asp2594His
XM_011512924.1:c.7786G>C	XP_011511226.1:p.Asp2596His
XM_011512925.1:c.7594G>C	XP_011511227.1:p.Asp2532His
XR_924147.1:n.10537G>C
XR_924148.1:n.8012G>C
NM_001354579.1:c.7588G>C	NP_001341508.1:p.Asp2530His
XR_001740179.2:n.8006G>C
XR_924148.2:n.8012G>C
NM_001184.4:c.7780G>C MANE Select	NP_001175.2:p.Asp2594His
NM_001354579.2:c.7588G>C	NP_001341508.1:p.Asp2530His