Canonical Allele Identifier: CA2650770

Gene: ATR

Linked Data

• ClinVar Variation Id: 1517516
• ClinVar RCV Id: RCV002027412 ; RCV003161266
• dbSNP Id: rs766281121
• ExAC: 3:142281823 T / A
• gnomAD v2: 3-142281823-T-A
• gnomAD v3: 3-142562981-T-A
• gnomAD v4: 3-142562981-T-A
• COSMIC: COSM4584008
• MyVariant Identifiers: chr3:g.142281823T>A (hg19) ; chr3:g.142562981T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562981T>A , CM000665.2:g.142562981T>A	GRCh38
NC_000003.11:g.142281823T>A , CM000665.1:g.142281823T>A	GRCh37
NC_000003.10:g.143764513T>A	NCBI36
NG_008951.1:g.20846A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.421A>T MANE Select	ENSP00000343741.4:p.Ile141Phe
ENST00000515149.3:c.293-1560A>T	ENSP00000425897.3:n.293-1560A>T
ENST00000653868.1:n.450A>T
ENST00000657914.1:n.2779A>T
ENST00000659195.1:n.2486A>T
ENST00000661310.1:c.421A>T	ENSP00000499589.1:p.Ile141Phe
ENST00000350721.8:c.421A>T	ENSP00000343741.4:p.Ile141Phe
ENST00000507148.1:c.293-633A>T	ENSP00000426595.1:n.293-633A>T
NM_001184.3:c.421A>T	NP_001175.2:p.Ile141Phe
XM_011512924.1:c.421A>T	XP_011511226.1:p.Ile141Phe
XM_011512925.1:c.421A>T	XP_011511227.1:p.Ile141Phe
XM_011512926.1:c.421A>T	XP_011511228.1:p.Ile141Phe
XM_011512927.1:c.421A>T	XP_011511229.1:p.Ile141Phe
XR_924147.1:n.510A>T
XR_924148.1:n.510A>T
XR_924149.1:n.510A>T
NM_001354579.1:c.421A>T	NP_001341508.1:p.Ile141Phe
XR_001740179.2:n.510A>T
XR_001740180.2:n.510A>T
XR_001740181.2:n.510A>T
XR_001740182.1:n.510A>T
XR_002959543.1:n.510A>T
XR_924148.2:n.510A>T
NM_001184.4:c.421A>T MANE Select	NP_001175.2:p.Ile141Phe
NM_001354579.2:c.421A>T	NP_001341508.1:p.Ile141Phe